Canonical Allele Identifier: CA447401813
Gene: SLC26A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.149357425T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149977862T>G , CM000667.2:g.149977862T>G GRCh38
NC_000005.9:g.149357425T>G , CM000667.1:g.149357425T>G GRCh37
NC_000005.8:g.149337618T>G NCBI36
NG_007147.2:g.18980T>G , LRG_684:g.18980T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000690410.1:n.442T>G
ENST00000286298.5:c.210T>G MANE Select ENSP00000286298.4:p.Val70=
ENST00000286298.4:c.210T>G ENSP00000286298.4:p.Val70=
NM_000112.3:c.210T>G , LRG_684t1:c.210T>G NP_000103.2:p.Val70=
XM_017009191.2:c.210T>G XP_016864680.1:p.Val70=
NM_000112.4:c.210T>G MANE Select NP_000103.2:p.Val70=