Canonical Allele Identifier: CA361708748

Gene: SLC26A2

Linked Data

• MyVariant Identifiers: chr5:g.149360928A>G (hg19) ; chr5:g.149981365A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149981365A>G , CM000667.2:g.149981365A>G	GRCh38
NC_000005.9:g.149360928A>G , CM000667.1:g.149360928A>G	GRCh37
NC_000005.8:g.149341121A>G	NCBI36
NG_007147.2:g.22483A>G , LRG_684:g.22483A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286298.5:c.1772A>G MANE Select	ENSP00000286298.4:p.Asn591Ser
ENST00000286298.4:c.1772A>G	ENSP00000286298.4:p.Asn591Ser
ENST00000503336.1:c.372+3014A>G	ENSP00000426053.1:n.372+3014A>G
NM_000112.3:c.1772A>G , LRG_684t1:c.1772A>G	NP_000103.2:p.Asn591Ser
XM_017009191.2:c.1772A>G	XP_016864680.1:p.Asn591Ser
NM_000112.4:c.1772A>G MANE Select	NP_000103.2:p.Asn591Ser