Canonical Allele Identifier: CA447402546
Gene: SLC26A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.149360533A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980970A>G , CM000667.2:g.149980970A>G GRCh38
NC_000005.9:g.149360533A>G , CM000667.1:g.149360533A>G GRCh37
NC_000005.8:g.149340726A>G NCBI36
NG_007147.2:g.22088A>G , LRG_684:g.22088A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.1377A>G MANE Select ENSP00000286298.4:p.Val459=
ENST00000286298.4:c.1377A>G ENSP00000286298.4:p.Val459=
ENST00000503336.1:c.372+2619A>G ENSP00000426053.1:n.372+2619A>G
NM_000112.3:c.1377A>G , LRG_684t1:c.1377A>G NP_000103.2:p.Val459=
XM_017009191.2:c.1377A>G XP_016864680.1:p.Val459=
NM_000112.4:c.1377A>G MANE Select NP_000103.2:p.Val459=