Canonical Allele Identifier: CA10623607

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 352017
• ClinVar RCV Id: RCV000282159 ; RCV000295556 ; RCV000348865 ; RCV000374396 ; RCV000387555
• dbSNP Id: rs540241474
• gnomAD v2: 5-149340385-G-C
• gnomAD v3: 5-149960822-G-C
• gnomAD v4: 5-149960822-G-C
• MyVariant Identifiers: chr5:g.149340385G>C (hg19) ; chr5:g.149960822G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149960822G>C , CM000667.2:g.149960822G>C	GRCh38
NC_000005.9:g.149340385G>C , CM000667.1:g.149340385G>C	GRCh37
NC_000005.8:g.149320578G>C	NCBI36
NG_007147.2:g.1940G>C , LRG_684:g.1940G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690410.1:n.50G>C
ENST00000286298.5:c.-183G>C MANE Select	ENSP00000286298.4:n.-183G>C
ENST00000286298.4:c.-183G>C	ENSP00000286298.4:n.-183G>C
ENST00000433184.1:c.-463G>C	ENSP00000405496.1:n.-463G>C
NM_000112.3:c.-183G>C , LRG_684t1:c.-183G>C	NP_000103.2:n.-183G>C
XM_017009191.2:c.-183G>C	XP_016864680.1:n.-183G>C
NM_000112.4:c.-183G>C MANE Select	NP_000103.2:n.-183G>C