Canonical Allele Identifier: CA214457

Gene: NT5C2

Linked Data

• ClinVar Variation Id: 100904
• ClinVar RCV Id: RCV000087268 ; RCV001310575
• dbSNP Id: rs587777173
• gnomAD v4: 10-103174874-G-A
• MyVariant Identifiers: chr10:g.104934631G>A (hg19) ; chr10:g.103174874G>A (hg38)
• PubMed: PMID:19415352 ; PMID:24482476

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.103174874G>A , CM000672.2:g.103174874G>A	GRCh38
NC_000010.10:g.104934631G>A , CM000672.1:g.104934631G>A	GRCh37
NC_000010.9:g.104924621G>A	NCBI36
NG_042272.1:g.23433C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369857.9:c.85C>T	ENSP00000501806.1:p.Arg29Ter
ENST00000404739.8:c.85C>T MANE Select	ENSP00000383960.3:p.Arg29Ter
ENST00000470299.2:c.85C>T	ENSP00000474247.1:p.Arg29Ter
ENST00000674696.1:c.85C>T	ENSP00000502679.1:p.Arg29Ter
ENST00000674728.1:c.85C>T	ENSP00000502126.1:p.Arg29Ter
ENST00000674860.1:c.85C>T	ENSP00000502816.1:p.Arg29Ter
ENST00000675020.1:c.85C>T	ENSP00000501653.1:p.Arg29Ter
ENST00000675040.1:c.85C>T	ENSP00000502090.1:p.Arg29Ter
ENST00000675164.1:c.85C>T	ENSP00000502128.1:p.Arg29Ter
ENST00000675326.1:c.85C>T	ENSP00000502205.1:p.Arg29Ter
ENST00000675436.1:c.85C>T	ENSP00000501565.1:p.Arg29Ter
ENST00000675645.1:c.85C>T	ENSP00000502663.1:p.Arg29Ter
ENST00000675811.1:c.85C>T	ENSP00000501901.1:p.Arg29Ter
ENST00000676428.1:c.85C>T	ENSP00000501689.1:p.Arg29Ter
ENST00000676449.1:c.85C>T	ENSP00000502801.1:p.Arg29Ter
ENST00000343289.9:c.85C>T	ENSP00000339479.5:p.Arg29Ter
ENST00000369857.8:n.37+18362C>T
ENST00000404739.7:c.85C>T	ENSP00000383960.3:p.Arg29Ter
ENST00000452156.5:c.85C>T	ENSP00000396468.1:p.Arg29Ter
ENST00000461461.5:c.85C>T	ENSP00000474091.1:p.Arg29Ter
ENST00000467380.1:n.245C>T
ENST00000470299.1:c.85C>T	ENSP00000474247.1:p.Arg29Ter
NM_001134373.2:c.85C>T	NP_001127845.1:p.Arg29Ter
NM_012229.4:c.85C>T	NP_036361.1:p.Arg29Ter
XM_005269632.3:c.85C>T	XP_005269689.1:p.Arg29Ter
XM_005269633.3:c.85C>T	XP_005269690.1:p.Arg29Ter
XM_005269634.3:c.85C>T	XP_005269691.1:p.Arg29Ter
XM_005269635.3:c.85C>T	XP_005269692.1:p.Arg29Ter
XM_005269636.3:c.85C>T	XP_005269693.1:p.Arg29Ter
XM_005269640.3:c.-550C>T	XP_005269697.1:n.-550C>T
XM_005269641.3:c.-550C>T	XP_005269698.1:n.-550C>T
XM_005269643.3:c.-415C>T	XP_005269700.1:n.-415C>T
XM_005269644.3:c.-574C>T	XP_005269701.1:n.-574C>T
XM_005269645.3:c.-574C>T	XP_005269702.1:n.-574C>T
XM_005269646.3:c.-500C>T	XP_005269703.1:n.-500C>T
XM_006717721.2:c.-476C>T	XP_006717784.1:n.-476C>T
XM_006717722.2:c.-371C>T	XP_006717785.1:n.-371C>T
XM_006717723.2:c.-371C>T	XP_006717786.1:n.-371C>T
XM_006717724.2:c.-395C>T	XP_006717787.1:n.-395C>T
XM_011539534.1:c.85C>T	XP_011537836.1:p.Arg29Ter
XM_011539537.1:c.85C>T	XP_011537839.1:p.Arg29Ter
NM_001351169.1:c.85C>T	NP_001338098.1:p.Arg29Ter
NM_001351170.1:c.85C>T	NP_001338099.1:p.Arg29Ter
NM_001351171.1:c.85C>T	NP_001338100.1:p.Arg29Ter
NM_001351172.1:c.85C>T	NP_001338101.1:p.Arg29Ter
NM_001351173.1:c.85C>T	NP_001338102.1:p.Arg29Ter
NM_001351175.1:c.-133C>T	NP_001338104.1:n.-133C>T
NM_001351176.1:c.-476C>T	NP_001338105.1:n.-476C>T
NM_001351177.1:c.-550C>T	NP_001338106.1:n.-550C>T
NM_001351178.1:c.-574C>T	NP_001338107.1:n.-574C>T
NM_001351179.1:c.-742C>T	NP_001338108.1:n.-742C>T
NM_001351180.1:c.-607C>T	NP_001338109.1:n.-607C>T
NM_001351181.1:c.-323C>T	NP_001338110.1:n.-323C>T
NM_001351182.1:c.-742C>T	NP_001338111.1:n.-742C>T
NM_001351183.1:c.-415C>T	NP_001338112.1:n.-415C>T
NM_001351184.1:c.-681C>T	NP_001338113.1:n.-681C>T
NM_001351185.1:c.-702C>T	NP_001338114.1:n.-702C>T
NM_001351186.1:c.-766C>T	NP_001338115.1:n.-766C>T
NM_001351187.1:c.-787C>T	NP_001338116.1:n.-787C>T
NM_001351188.1:c.-668C>T	NP_001338117.1:n.-668C>T
NM_001351189.1:c.-681C>T	NP_001338118.1:n.-681C>T
NM_001351190.1:c.-574C>T	NP_001338119.1:n.-574C>T
NM_001351194.1:c.-597C>T	NP_001338123.1:n.-597C>T
NM_001351195.1:c.-732C>T	NP_001338124.1:n.-732C>T
NM_001351196.1:c.-756C>T	NP_001338125.1:n.-756C>T
NM_001351197.1:c.-550C>T	NP_001338126.1:n.-550C>T
XM_005269645.4:c.-574C>T	XP_005269702.1:n.-574C>T
XM_005269646.4:c.-500C>T	XP_005269703.1:n.-500C>T
XM_006717721.3:c.-476C>T	XP_006717784.1:n.-476C>T
XM_006717723.3:c.-371C>T	XP_006717786.1:n.-371C>T
XM_011539537.2:c.85C>T	XP_011537839.1:p.Arg29Ter
XM_017015966.1:c.-628C>T	XP_016871455.1:n.-628C>T
XM_017015967.1:c.-563C>T	XP_016871456.1:n.-563C>T
XM_017015974.1:c.-658C>T	XP_016871463.1:n.-658C>T
XM_024447901.1:c.85C>T	XP_024303669.1:p.Arg29Ter
XM_024447902.1:c.85C>T	XP_024303670.1:p.Arg29Ter
XM_024447904.1:c.-681C>T	XP_024303672.1:n.-681C>T
XM_024447905.1:c.-1363C>T	XP_024303673.1:n.-1363C>T
XM_024447907.1:c.-2312C>T	XP_024303675.1:n.-2312C>T
XM_024447908.1:c.-2373C>T	XP_024303676.1:n.-2373C>T
XM_024447909.1:c.-597C>T	XP_024303677.1:n.-597C>T
XM_024447910.1:c.-597C>T	XP_024303678.1:n.-597C>T
XM_024447911.1:c.-2299C>T	XP_024303679.1:n.-2299C>T
NM_001134373.3:c.85C>T	NP_001127845.1:p.Arg29Ter
NM_001351169.2:c.85C>T MANE Select	NP_001338098.1:p.Arg29Ter
NM_001351170.2:c.85C>T	NP_001338099.1:p.Arg29Ter
NM_001351171.2:c.85C>T	NP_001338100.1:p.Arg29Ter
NM_001351172.2:c.85C>T	NP_001338101.1:p.Arg29Ter
NM_001351173.2:c.85C>T	NP_001338102.1:p.Arg29Ter
NM_001351175.2:c.-133C>T	NP_001338104.1:n.-133C>T
NM_001351176.2:c.-476C>T	NP_001338105.1:n.-476C>T
NM_001351177.2:c.-550C>T	NP_001338106.1:n.-550C>T
NM_001351178.2:c.-574C>T	NP_001338107.1:n.-574C>T
NM_001351179.2:c.-742C>T	NP_001338108.1:n.-742C>T
NM_001351180.2:c.-607C>T	NP_001338109.1:n.-607C>T
NM_001351181.2:c.-323C>T	NP_001338110.1:n.-323C>T
NM_001351182.2:c.-742C>T	NP_001338111.1:n.-742C>T
NM_001351183.2:c.-415C>T	NP_001338112.1:n.-415C>T
NM_001351184.2:c.-681C>T	NP_001338113.1:n.-681C>T
NM_001351185.2:c.-702C>T	NP_001338114.1:n.-702C>T
NM_001351186.2:c.-766C>T	NP_001338115.1:n.-766C>T
NM_001351187.2:c.-787C>T	NP_001338116.1:n.-787C>T
NM_001351188.2:c.-668C>T	NP_001338117.1:n.-668C>T
NM_001351189.2:c.-681C>T	NP_001338118.1:n.-681C>T
NM_001351190.2:c.-574C>T	NP_001338119.1:n.-574C>T
NM_001351194.2:c.-597C>T	NP_001338123.1:n.-597C>T
NM_001351195.2:c.-732C>T	NP_001338124.1:n.-732C>T
NM_001351196.2:c.-756C>T	NP_001338125.1:n.-756C>T
NM_001351197.2:c.-550C>T	NP_001338126.1:n.-550C>T
NM_012229.5:c.85C>T	NP_036361.1:p.Arg29Ter