Canonical Allele Identifier: CA447402758

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 2936471
• ClinVar RCV Id: RCV003798709
• gnomAD v4: 5-149981378-T-C
• MyVariant Identifiers: chr5:g.149360941T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149981378T>C , CM000667.2:g.149981378T>C	GRCh38
NC_000005.9:g.149360941T>C , CM000667.1:g.149360941T>C	GRCh37
NC_000005.8:g.149341134T>C	NCBI36
NG_007147.2:g.22496T>C , LRG_684:g.22496T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286298.5:c.1785T>C MANE Select	ENSP00000286298.4:p.Phe595=
ENST00000286298.4:c.1785T>C	ENSP00000286298.4:p.Phe595=
ENST00000503336.1:c.372+3027T>C	ENSP00000426053.1:n.372+3027T>C
NM_000112.3:c.1785T>C , LRG_684t1:c.1785T>C	NP_000103.2:p.Phe595=
XM_017009191.2:c.1785T>C	XP_016864680.1:p.Phe595=
NM_000112.4:c.1785T>C MANE Select	NP_000103.2:p.Phe595=