Canonical Allele Identifier: CA361706987

Gene: SLC26A2

Linked Data

• dbSNP Id: rs1167797605
• MyVariant Identifiers: chr5:g.149360181C>T (hg19) ; chr5:g.149980618C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149980618C>T , CM000667.2:g.149980618C>T	GRCh38
NC_000005.9:g.149360181C>T , CM000667.1:g.149360181C>T	GRCh37
NC_000005.8:g.149340374C>T	NCBI36
NG_007147.2:g.21736C>T , LRG_684:g.21736C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286298.5:c.1025C>T MANE Select	ENSP00000286298.4:p.Ala342Val
ENST00000286298.4:c.1025C>T	ENSP00000286298.4:p.Ala342Val
ENST00000503336.1:c.372+2267C>T	ENSP00000426053.1:n.372+2267C>T
NM_000112.3:c.1025C>T , LRG_684t1:c.1025C>T	NP_000103.2:p.Ala342Val
XM_017009191.2:c.1025C>T	XP_016864680.1:p.Ala342Val
NM_000112.4:c.1025C>T MANE Select	NP_000103.2:p.Ala342Val