Canonical Allele Identifier: CA447402647
Gene: SLC26A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.149357908T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978345T>G , CM000667.2:g.149978345T>G GRCh38
NC_000005.9:g.149357908T>G , CM000667.1:g.149357908T>G GRCh37
NC_000005.8:g.149338101T>G NCBI36
NG_007147.2:g.19463T>G , LRG_684:g.19463T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.925T>G
ENST00000286298.5:c.693T>G MANE Select ENSP00000286298.4:p.Val231=
ENST00000286298.4:c.693T>G ENSP00000286298.4:p.Val231=
ENST00000503336.1:c.366T>G ENSP00000426053.1:p.Val122=
NM_000112.3:c.693T>G , LRG_684t1:c.693T>G NP_000103.2:p.Val231=
XM_017009191.2:c.693T>G XP_016864680.1:p.Val231=
NM_000112.4:c.693T>G MANE Select NP_000103.2:p.Val231=