Canonical Allele Identifier: CA361708107

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 2120572
• ClinVar RCV Id: RCV003025216
• MyVariant Identifiers: chr5:g.149360705G>C (hg19) ; chr5:g.149981142G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149981142G>C , CM000667.2:g.149981142G>C	GRCh38
NC_000005.9:g.149360705G>C , CM000667.1:g.149360705G>C	GRCh37
NC_000005.8:g.149340898G>C	NCBI36
NG_007147.2:g.22260G>C , LRG_684:g.22260G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000286298.5:c.1549G>C MANE Select	ENSP00000286298.4:p.Val517Leu
ENST00000286298.4:c.1549G>C	ENSP00000286298.4:p.Val517Leu
ENST00000503336.1:c.372+2791G>C	ENSP00000426053.1:n.372+2791G>C
NM_000112.3:c.1549G>C , LRG_684t1:c.1549G>C	NP_000103.2:p.Val517Leu
XM_017009191.2:c.1549G>C	XP_016864680.1:p.Val517Leu
NM_000112.4:c.1549G>C MANE Select	NP_000103.2:p.Val517Leu