Canonical Allele Identifier: CA447401963
Gene: SLC26A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.149359894C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980331C>G , CM000667.2:g.149980331C>G GRCh38
NC_000005.9:g.149359894C>G , CM000667.1:g.149359894C>G GRCh37
NC_000005.8:g.149340087C>G NCBI36
NG_007147.2:g.21449C>G , LRG_684:g.21449C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.738C>G MANE Select ENSP00000286298.4:p.Val246=
ENST00000286298.4:c.738C>G ENSP00000286298.4:p.Val246=
ENST00000503336.1:c.372+1980C>G ENSP00000426053.1:n.372+1980C>G
NM_000112.3:c.738C>G , LRG_684t1:c.738C>G NP_000103.2:p.Val246=
XM_017009191.2:c.738C>G XP_016864680.1:p.Val246=
NM_000112.4:c.738C>G MANE Select NP_000103.2:p.Val246=
Search 100 bp 5'
Search 100 bp 3'