Canonical Allele Identifier: CA5670762

Gene: NT5C2

Linked Data

• ClinVar Variation Id: 474942
• ClinVar RCV Id: RCV000553579
• dbSNP Id: rs138710030
• ExAC: 10:104850404 G / A
• gnomAD v2: 10-104850404-G-A
• gnomAD v3: 10-103090647-G-A
• gnomAD v4: 10-103090647-G-A
• MyVariant Identifiers: chr10:g.104850404G>A (hg19) ; chr10:g.103090647G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.103090647G>A , CM000672.2:g.103090647G>A	GRCh38
NC_000010.10:g.104850404G>A , CM000672.1:g.104850404G>A	GRCh37
NC_000010.9:g.104840394G>A	NCBI36
NG_042272.1:g.107660C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369857.9:c.*1068C>T	ENSP00000501806.1:n.*1068C>T
ENST00000404739.8:c.1413C>T MANE Select	ENSP00000383960.3:p.Tyr471=
ENST00000674696.1:c.1413C>T	ENSP00000502679.1:p.Tyr471=
ENST00000674728.1:c.*2893C>T	ENSP00000502126.1:n.*2893C>T
ENST00000674860.1:c.1437C>T	ENSP00000502816.1:p.Tyr479=
ENST00000675020.1:c.*1257C>T	ENSP00000501653.1:n.*1257C>T
ENST00000675040.1:c.*936C>T	ENSP00000502090.1:n.*936C>T
ENST00000675164.1:c.*1285C>T	ENSP00000502128.1:n.*1285C>T
ENST00000675326.1:c.1413C>T	ENSP00000502205.1:p.Tyr471=
ENST00000675436.1:c.*1351C>T	ENSP00000501565.1:n.*1351C>T
ENST00000675645.1:c.1273-9C>T	ENSP00000502663.1:n.1273-9C>T
ENST00000675811.1:c.*1350C>T	ENSP00000501901.1:n.*1350C>T
ENST00000675985.1:c.1326C>T	ENSP00000502215.1:p.Tyr442=
ENST00000676428.1:c.1413C>T	ENSP00000501689.1:p.Tyr471=
ENST00000676449.1:c.1413C>T	ENSP00000502801.1:p.Tyr471=
ENST00000343289.9:c.1413C>T	ENSP00000339479.5:p.Tyr471=
ENST00000369857.8:n.1597C>T
ENST00000404739.7:c.1413C>T	ENSP00000383960.3:p.Tyr471=
ENST00000421281.1:c.372+289C>T	ENSP00000408112.1:n.372+289C>T
NM_001134373.2:c.1413C>T	NP_001127845.1:p.Tyr471=
NM_012229.4:c.1413C>T	NP_036361.1:p.Tyr471=
XM_005269632.3:c.1437C>T	XP_005269689.1:p.Tyr479=
XM_005269633.3:c.1437C>T	XP_005269690.1:p.Tyr479=
XM_005269634.3:c.1437C>T	XP_005269691.1:p.Tyr479=
XM_005269635.3:c.1437C>T	XP_005269692.1:p.Tyr479=
XM_005269636.3:c.1413C>T	XP_005269693.1:p.Tyr471=
XM_005269637.3:c.1350C>T	XP_005269694.1:p.Tyr450=
XM_005269638.3:c.1341C>T	XP_005269695.1:p.Tyr447=
XM_005269639.3:c.1326C>T	XP_005269696.1:p.Tyr442=
XM_005269640.3:c.840C>T	XP_005269697.1:p.Tyr280=
XM_005269641.3:c.840C>T	XP_005269698.1:p.Tyr280=
XM_005269642.3:c.840C>T	XP_005269699.1:p.Tyr280=
XM_005269643.3:c.840C>T	XP_005269700.1:p.Tyr280=
XM_005269644.3:c.840C>T	XP_005269701.1:p.Tyr280=
XM_005269645.3:c.840C>T	XP_005269702.1:p.Tyr280=
XM_005269646.3:c.840C>T	XP_005269703.1:p.Tyr280=
XM_006717721.2:c.840C>T	XP_006717784.1:p.Tyr280=
XM_006717722.2:c.840C>T	XP_006717785.1:p.Tyr280=
XM_006717723.2:c.840C>T	XP_006717786.1:p.Tyr280=
XM_006717724.2:c.840C>T	XP_006717787.1:p.Tyr280=
XM_011539534.1:c.1437C>T	XP_011537836.1:p.Tyr479=
XM_011539535.1:c.1329C>T	XP_011537837.1:p.Tyr443=
XM_011539536.1:c.1344C>T	XP_011537838.1:p.Tyr448=
XM_011539537.1:c.1266C>T	XP_011537839.1:p.Tyr422=
NM_001351169.1:c.1413C>T	NP_001338098.1:p.Tyr471=
NM_001351170.1:c.1437C>T	NP_001338099.1:p.Tyr479=
NM_001351171.1:c.1437C>T	NP_001338100.1:p.Tyr479=
NM_001351172.1:c.1437C>T	NP_001338101.1:p.Tyr479=
NM_001351173.1:c.1437C>T	NP_001338102.1:p.Tyr479=
NM_001351174.1:c.1326C>T	NP_001338103.1:p.Tyr442=
NM_001351175.1:c.1320C>T	NP_001338104.1:p.Tyr440=
NM_001351176.1:c.840C>T	NP_001338105.1:p.Tyr280=
NM_001351177.1:c.840C>T	NP_001338106.1:p.Tyr280=
NM_001351178.1:c.840C>T	NP_001338107.1:p.Tyr280=
NM_001351179.1:c.840C>T	NP_001338108.1:p.Tyr280=
NM_001351180.1:c.840C>T	NP_001338109.1:p.Tyr280=
NM_001351181.1:c.840C>T	NP_001338110.1:p.Tyr280=
NM_001351182.1:c.840C>T	NP_001338111.1:p.Tyr280=
NM_001351183.1:c.840C>T	NP_001338112.1:p.Tyr280=
NM_001351184.1:c.840C>T	NP_001338113.1:p.Tyr280=
NM_001351185.1:c.840C>T	NP_001338114.1:p.Tyr280=
NM_001351186.1:c.840C>T	NP_001338115.1:p.Tyr280=
NM_001351187.1:c.840C>T	NP_001338116.1:p.Tyr280=
NM_001351188.1:c.840C>T	NP_001338117.1:p.Tyr280=
NM_001351189.1:c.840C>T	NP_001338118.1:p.Tyr280=
NM_001351190.1:c.840C>T	NP_001338119.1:p.Tyr280=
NM_001351191.1:c.840C>T	NP_001338120.1:p.Tyr280=
NM_001351192.1:c.840C>T	NP_001338121.1:p.Tyr280=
NM_001351193.1:c.840C>T	NP_001338122.1:p.Tyr280=
NM_001351194.1:c.699C>T	NP_001338123.1:p.Tyr233=
NM_001351195.1:c.699C>T	NP_001338124.1:p.Tyr233=
NM_001351196.1:c.699C>T	NP_001338125.1:p.Tyr233=
NM_001351197.1:c.840C>T	NP_001338126.1:p.Tyr280=
XM_005269637.5:c.1350C>T	XP_005269694.1:p.Tyr450=
XM_005269645.4:c.840C>T	XP_005269702.1:p.Tyr280=
XM_005269646.4:c.840C>T	XP_005269703.1:p.Tyr280=
XM_006717721.3:c.840C>T	XP_006717784.1:p.Tyr280=
XM_006717723.3:c.840C>T	XP_006717786.1:p.Tyr280=
XM_011539537.2:c.1266C>T	XP_011537839.1:p.Tyr422=
XM_017015947.2:c.1344C>T	XP_016871436.1:p.Tyr448=
XM_017015966.1:c.840C>T	XP_016871455.1:p.Tyr280=
XM_017015967.1:c.840C>T	XP_016871456.1:p.Tyr280=
XM_017015974.1:c.699C>T	XP_016871463.1:p.Tyr233=
XM_024447901.1:c.1437C>T	XP_024303669.1:p.Tyr479=
XM_024447902.1:c.1413C>T	XP_024303670.1:p.Tyr471=
XM_024447903.1:c.1305C>T	XP_024303671.1:p.Tyr435=
XM_024447904.1:c.840C>T	XP_024303672.1:p.Tyr280=
XM_024447905.1:c.765C>T	XP_024303673.1:p.Tyr255=
XM_024447907.1:c.765C>T	XP_024303675.1:p.Tyr255=
XM_024447908.1:c.765C>T	XP_024303676.1:p.Tyr255=
XM_024447909.1:c.699C>T	XP_024303677.1:p.Tyr233=
XM_024447910.1:c.699C>T	XP_024303678.1:p.Tyr233=
XM_024447911.1:c.765C>T	XP_024303679.1:p.Tyr255=
NM_001134373.3:c.1413C>T	NP_001127845.1:p.Tyr471=
NM_001351169.2:c.1413C>T MANE Select	NP_001338098.1:p.Tyr471=
NM_001351170.2:c.1437C>T	NP_001338099.1:p.Tyr479=
NM_001351171.2:c.1437C>T	NP_001338100.1:p.Tyr479=
NM_001351172.2:c.1437C>T	NP_001338101.1:p.Tyr479=
NM_001351173.2:c.1437C>T	NP_001338102.1:p.Tyr479=
NM_001351175.2:c.1320C>T	NP_001338104.1:p.Tyr440=
NM_001351176.2:c.840C>T	NP_001338105.1:p.Tyr280=
NM_001351177.2:c.840C>T	NP_001338106.1:p.Tyr280=
NM_001351178.2:c.840C>T	NP_001338107.1:p.Tyr280=
NM_001351179.2:c.840C>T	NP_001338108.1:p.Tyr280=
NM_001351180.2:c.840C>T	NP_001338109.1:p.Tyr280=
NM_001351181.2:c.840C>T	NP_001338110.1:p.Tyr280=
NM_001351182.2:c.840C>T	NP_001338111.1:p.Tyr280=
NM_001351183.2:c.840C>T	NP_001338112.1:p.Tyr280=
NM_001351184.2:c.840C>T	NP_001338113.1:p.Tyr280=
NM_001351185.2:c.840C>T	NP_001338114.1:p.Tyr280=
NM_001351186.2:c.840C>T	NP_001338115.1:p.Tyr280=
NM_001351187.2:c.840C>T	NP_001338116.1:p.Tyr280=
NM_001351188.2:c.840C>T	NP_001338117.1:p.Tyr280=
NM_001351189.2:c.840C>T	NP_001338118.1:p.Tyr280=
NM_001351190.2:c.840C>T	NP_001338119.1:p.Tyr280=
NM_001351194.2:c.699C>T	NP_001338123.1:p.Tyr233=
NM_001351195.2:c.699C>T	NP_001338124.1:p.Tyr233=
NM_001351196.2:c.699C>T	NP_001338125.1:p.Tyr233=
NM_001351197.2:c.840C>T	NP_001338126.1:p.Tyr280=
NM_012229.5:c.1413C>T	NP_036361.1:p.Tyr471=