Canonical Allele Identifier: CA10619694

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 352092
• ClinVar RCV Id: RCV000259349 ; RCV000281580 ; RCV000316963 ; RCV000373808 ; RCV000389033 ; RCV001785596
• dbSNP Id: rs72832119
• gnomAD v2: 5-149366175-G-A
• gnomAD v3: 5-149986612-G-A
• gnomAD v4: 5-149986612-G-A
• MyVariant Identifiers: chr5:g.149366175G>A (hg19) ; chr5:g.149986612G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149986612G>A , CM000667.2:g.149986612G>A	GRCh38
NC_000005.9:g.149366175G>A , CM000667.1:g.149366175G>A	GRCh37
NC_000005.8:g.149346368G>A	NCBI36
NG_007147.2:g.27730G>A , LRG_684:g.27730G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286298.5:c.*4799G>A MANE Select	ENSP00000286298.4:n.*4799G>A
ENST00000286298.4:c.*4799G>A	ENSP00000286298.4:n.*4799G>A
ENST00000503336.1:c.373-6598G>A	ENSP00000426053.1:n.373-6598G>A
NM_000112.3:c.*4799G>A , LRG_684t1:c.*4799G>A	NP_000103.2:n.*4799G>A
XM_017009191.2:c.*4696G>A	XP_016864680.1:n.*4696G>A
NM_000112.4:c.*4799G>A MANE Select	NP_000103.2:n.*4799G>A