Canonical Allele Identifier: CA447402606
Gene: SLC26A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.149357890A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978327A>C , CM000667.2:g.149978327A>C GRCh38
NC_000005.9:g.149357890A>C , CM000667.1:g.149357890A>C GRCh37
NC_000005.8:g.149338083A>C NCBI36
NG_007147.2:g.19445A>C , LRG_684:g.19445A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.907A>C
ENST00000286298.5:c.675A>C MANE Select ENSP00000286298.4:p.Val225=
ENST00000286298.4:c.675A>C ENSP00000286298.4:p.Val225=
ENST00000503336.1:c.348A>C ENSP00000426053.1:p.Val116=
NM_000112.3:c.675A>C , LRG_684t1:c.675A>C NP_000103.2:p.Val225=
XM_017009191.2:c.675A>C XP_016864680.1:p.Val225=
NM_000112.4:c.675A>C MANE Select NP_000103.2:p.Val225=