Canonical Allele Identifier: CA363169096

Gene: SLC17A2

Linked Data

• COSMIC: COSM740934 ; COSM4333336
• MyVariant Identifiers: chr6:g.25918760G>T (hg19) ; chr6:g.25918532G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25918532G>T , CM000668.2:g.25918532G>T	GRCh38
NC_000006.11:g.25918760G>T , CM000668.1:g.25918760G>T	GRCh37
NC_000006.10:g.26026739G>T	NCBI36
NG_034000.1:g.17195C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000377850.8:c.604C>A MANE Select	ENSP00000367081.3:p.Leu202Ile
ENST00000265425.3:c.604C>A	ENSP00000265425.3:p.Leu202Ile
ENST00000360488.7:c.604C>A	ENSP00000353677.3:p.Leu202Ile
ENST00000377850.7:c.604C>A	ENSP00000367081.3:p.Leu202Ile
NM_001286123.1:c.604C>A	NP_001273052.1:p.Leu202Ile
NM_001286125.1:c.604C>A	NP_001273054.1:p.Leu202Ile
NM_005835.3:c.604C>A	NP_005826.1:p.Leu202Ile
XM_005248784.2:c.604C>A	XP_005248841.1:p.Leu202Ile
XM_006714949.2:c.604C>A	XP_006715012.1:p.Leu202Ile
XM_006714950.1:c.535C>A	XP_006715013.1:p.Leu179Ile
XM_006714951.1:c.604C>A	XP_006715014.1:p.Leu202Ile
XM_011514227.1:c.604C>A	XP_011512529.1:p.Leu202Ile
XM_006714949.3:c.604C>A	XP_006715012.1:p.Leu202Ile
XM_006714950.2:c.535C>A	XP_006715013.1:p.Leu179Ile
XM_017010159.1:c.535C>A	XP_016865648.1:p.Leu179Ile
XM_017010160.1:c.604C>A	XP_016865649.1:p.Leu202Ile
NM_001286123.3:c.604C>A MANE Select	NP_001273052.1:p.Leu202Ile
NM_001286125.2:c.604C>A	NP_001273054.1:p.Leu202Ile
NM_005835.4:c.604C>A	NP_005826.1:p.Leu202Ile