Canonical Allele Identifier: CA447402347
Gene: SLC26A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.149360119C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980556C>A , CM000667.2:g.149980556C>A GRCh38
NC_000005.9:g.149360119C>A , CM000667.1:g.149360119C>A GRCh37
NC_000005.8:g.149340312C>A NCBI36
NG_007147.2:g.21674C>A , LRG_684:g.21674C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.963C>A MANE Select ENSP00000286298.4:p.Leu321=
ENST00000286298.4:c.963C>A ENSP00000286298.4:p.Leu321=
ENST00000503336.1:c.372+2205C>A ENSP00000426053.1:n.372+2205C>A
NM_000112.3:c.963C>A , LRG_684t1:c.963C>A NP_000103.2:p.Leu321=
XM_017009191.2:c.963C>A XP_016864680.1:p.Leu321=
NM_000112.4:c.963C>A MANE Select NP_000103.2:p.Leu321=