Canonical Allele Identifier: CA377968905

Gene: NT5C2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.103090657A>G , CM000672.2:g.103090657A>G	GRCh38
NC_000010.10:g.104850414A>G , CM000672.1:g.104850414A>G	GRCh37
NC_000010.9:g.104840404A>G	NCBI36
NG_042272.1:g.107650T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001351169.2:c.1403T>C MANE Select	NP_001338098.1:p.Leu468Pro
ENST00000404739.8:c.1403T>C MANE Select	ENSP00000383960.3:p.Leu468Pro
NM_001134373.2:c.1403T>C	NP_001127845.1:p.Leu468Pro
NM_001134373.3:c.1403T>C	NP_001127845.1:p.Leu468Pro
NM_001351169.1:c.1403T>C	NP_001338098.1:p.Leu468Pro
NM_001351170.1:c.1427T>C	NP_001338099.1:p.Leu476Pro
NM_001351170.2:c.1427T>C	NP_001338099.1:p.Leu476Pro
NM_001351171.1:c.1427T>C	NP_001338100.1:p.Leu476Pro
NM_001351171.2:c.1427T>C	NP_001338100.1:p.Leu476Pro
NM_001351172.1:c.1427T>C	NP_001338101.1:p.Leu476Pro
NM_001351172.2:c.1427T>C	NP_001338101.1:p.Leu476Pro
NM_001351173.1:c.1427T>C	NP_001338102.1:p.Leu476Pro
NM_001351173.2:c.1427T>C	NP_001338102.1:p.Leu476Pro
NM_001351174.1:c.1316T>C	NP_001338103.1:p.Leu439Pro
NM_001351175.1:c.1310T>C	NP_001338104.1:p.Leu437Pro
NM_001351175.2:c.1310T>C	NP_001338104.1:p.Leu437Pro
NM_001351176.1:c.830T>C	NP_001338105.1:p.Leu277Pro
NM_001351176.2:c.830T>C	NP_001338105.1:p.Leu277Pro
NM_001351177.1:c.830T>C	NP_001338106.1:p.Leu277Pro
NM_001351177.2:c.830T>C	NP_001338106.1:p.Leu277Pro
NM_001351178.1:c.830T>C	NP_001338107.1:p.Leu277Pro
NM_001351178.2:c.830T>C	NP_001338107.1:p.Leu277Pro
NM_001351179.1:c.830T>C	NP_001338108.1:p.Leu277Pro
NM_001351179.2:c.830T>C	NP_001338108.1:p.Leu277Pro
NM_001351180.1:c.830T>C	NP_001338109.1:p.Leu277Pro
NM_001351180.2:c.830T>C	NP_001338109.1:p.Leu277Pro
NM_001351181.1:c.830T>C	NP_001338110.1:p.Leu277Pro
NM_001351181.2:c.830T>C	NP_001338110.1:p.Leu277Pro
NM_001351182.1:c.830T>C	NP_001338111.1:p.Leu277Pro
NM_001351182.2:c.830T>C	NP_001338111.1:p.Leu277Pro
NM_001351183.1:c.830T>C	NP_001338112.1:p.Leu277Pro
NM_001351183.2:c.830T>C	NP_001338112.1:p.Leu277Pro
NM_001351184.1:c.830T>C	NP_001338113.1:p.Leu277Pro
NM_001351184.2:c.830T>C	NP_001338113.1:p.Leu277Pro
NM_001351185.1:c.830T>C	NP_001338114.1:p.Leu277Pro
NM_001351185.2:c.830T>C	NP_001338114.1:p.Leu277Pro
NM_001351186.1:c.830T>C	NP_001338115.1:p.Leu277Pro
NM_001351186.2:c.830T>C	NP_001338115.1:p.Leu277Pro
NM_001351187.1:c.830T>C	NP_001338116.1:p.Leu277Pro
NM_001351187.2:c.830T>C	NP_001338116.1:p.Leu277Pro
NM_001351188.1:c.830T>C	NP_001338117.1:p.Leu277Pro
NM_001351188.2:c.830T>C	NP_001338117.1:p.Leu277Pro
NM_001351189.1:c.830T>C	NP_001338118.1:p.Leu277Pro
NM_001351189.2:c.830T>C	NP_001338118.1:p.Leu277Pro
NM_001351190.1:c.830T>C	NP_001338119.1:p.Leu277Pro
NM_001351190.2:c.830T>C	NP_001338119.1:p.Leu277Pro
NM_001351191.1:c.830T>C	NP_001338120.1:p.Leu277Pro
NM_001351192.1:c.830T>C	NP_001338121.1:p.Leu277Pro
NM_001351193.1:c.830T>C	NP_001338122.1:p.Leu277Pro
NM_001351194.1:c.689T>C	NP_001338123.1:p.Leu230Pro
NM_001351194.2:c.689T>C	NP_001338123.1:p.Leu230Pro
NM_001351195.1:c.689T>C	NP_001338124.1:p.Leu230Pro
NM_001351195.2:c.689T>C	NP_001338124.1:p.Leu230Pro
NM_001351196.1:c.689T>C	NP_001338125.1:p.Leu230Pro
NM_001351196.2:c.689T>C	NP_001338125.1:p.Leu230Pro
NM_001351197.1:c.830T>C	NP_001338126.1:p.Leu277Pro
NM_001351197.2:c.830T>C	NP_001338126.1:p.Leu277Pro
NM_012229.4:c.1403T>C	NP_036361.1:p.Leu468Pro
NM_012229.5:c.1403T>C	NP_036361.1:p.Leu468Pro
ENST00000343289.9:c.1403T>C	ENSP00000339479.5:p.Leu468Pro
ENST00000369857.8:n.1587T>C
ENST00000369857.9:c.*1058T>C	ENSP00000501806.1:n.*1058T>C
ENST00000404739.7:c.1403T>C	ENSP00000383960.3:p.Leu468Pro
ENST00000421281.1:c.372+279T>C	ENSP00000408112.1:n.372+279T>C
ENST00000674696.1:c.1403T>C	ENSP00000502679.1:p.Leu468Pro
ENST00000674728.1:c.*2883T>C	ENSP00000502126.1:n.*2883T>C
ENST00000674860.1:c.1427T>C	ENSP00000502816.1:p.Leu476Pro
ENST00000675020.1:c.*1247T>C	ENSP00000501653.1:n.*1247T>C
ENST00000675040.1:c.*926T>C	ENSP00000502090.1:n.*926T>C
ENST00000675164.1:c.*1275T>C	ENSP00000502128.1:n.*1275T>C
ENST00000675326.1:c.1403T>C	ENSP00000502205.1:p.Leu468Pro
ENST00000675436.1:c.*1341T>C	ENSP00000501565.1:n.*1341T>C
ENST00000675645.1:c.1273-19T>C	ENSP00000502663.1:n.1273-19T>C
ENST00000675811.1:c.*1340T>C	ENSP00000501901.1:n.*1340T>C
ENST00000675985.1:c.1316T>C	ENSP00000502215.1:p.Leu439Pro
ENST00000676428.1:c.1403T>C	ENSP00000501689.1:p.Leu468Pro
ENST00000676449.1:c.1403T>C	ENSP00000502801.1:p.Leu468Pro
XM_005269632.3:c.1427T>C	XP_005269689.1:p.Leu476Pro
XM_005269633.3:c.1427T>C	XP_005269690.1:p.Leu476Pro
XM_005269634.3:c.1427T>C	XP_005269691.1:p.Leu476Pro
XM_005269635.3:c.1427T>C	XP_005269692.1:p.Leu476Pro
XM_005269636.3:c.1403T>C	XP_005269693.1:p.Leu468Pro
XM_005269637.3:c.1340T>C	XP_005269694.1:p.Leu447Pro
XM_005269637.5:c.1340T>C	XP_005269694.1:p.Leu447Pro
XM_005269638.3:c.1331T>C	XP_005269695.1:p.Leu444Pro
XM_005269639.3:c.1316T>C	XP_005269696.1:p.Leu439Pro
XM_005269640.3:c.830T>C	XP_005269697.1:p.Leu277Pro
XM_005269641.3:c.830T>C	XP_005269698.1:p.Leu277Pro
XM_005269642.3:c.830T>C	XP_005269699.1:p.Leu277Pro
XM_005269643.3:c.830T>C	XP_005269700.1:p.Leu277Pro
XM_005269644.3:c.830T>C	XP_005269701.1:p.Leu277Pro
XM_005269645.3:c.830T>C	XP_005269702.1:p.Leu277Pro
XM_005269645.4:c.830T>C	XP_005269702.1:p.Leu277Pro
XM_005269646.3:c.830T>C	XP_005269703.1:p.Leu277Pro
XM_005269646.4:c.830T>C	XP_005269703.1:p.Leu277Pro
XM_006717721.2:c.830T>C	XP_006717784.1:p.Leu277Pro
XM_006717721.3:c.830T>C	XP_006717784.1:p.Leu277Pro
XM_006717722.2:c.830T>C	XP_006717785.1:p.Leu277Pro
XM_006717723.2:c.830T>C	XP_006717786.1:p.Leu277Pro
XM_006717723.3:c.830T>C	XP_006717786.1:p.Leu277Pro
XM_006717724.2:c.830T>C	XP_006717787.1:p.Leu277Pro
XM_011539534.1:c.1427T>C	XP_011537836.1:p.Leu476Pro
XM_011539535.1:c.1319T>C	XP_011537837.1:p.Leu440Pro
XM_011539536.1:c.1334T>C	XP_011537838.1:p.Leu445Pro
XM_011539537.1:c.1256T>C	XP_011537839.1:p.Leu419Pro
XM_011539537.2:c.1256T>C	XP_011537839.1:p.Leu419Pro
XM_017015947.2:c.1334T>C	XP_016871436.1:p.Leu445Pro
XM_017015966.1:c.830T>C	XP_016871455.1:p.Leu277Pro
XM_017015967.1:c.830T>C	XP_016871456.1:p.Leu277Pro
XM_017015974.1:c.689T>C	XP_016871463.1:p.Leu230Pro
XM_024447901.1:c.1427T>C	XP_024303669.1:p.Leu476Pro
XM_024447902.1:c.1403T>C	XP_024303670.1:p.Leu468Pro
XM_024447903.1:c.1295T>C	XP_024303671.1:p.Leu432Pro
XM_024447904.1:c.830T>C	XP_024303672.1:p.Leu277Pro
XM_024447905.1:c.755T>C	XP_024303673.1:p.Leu252Pro
XM_024447907.1:c.755T>C	XP_024303675.1:p.Leu252Pro
XM_024447908.1:c.755T>C	XP_024303676.1:p.Leu252Pro
XM_024447909.1:c.689T>C	XP_024303677.1:p.Leu230Pro
XM_024447910.1:c.689T>C	XP_024303678.1:p.Leu230Pro
XM_024447911.1:c.755T>C	XP_024303679.1:p.Leu252Pro