Canonical Allele Identifier: CA3505223

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 281118
• ClinVar RCV Id: RCV000398136 ; RCV000987616 ; RCV001154133 ; RCV001154972 ; RCV001154973 ; RCV001154974 ; RCV000539759 ; RCV001812767
• dbSNP Id: rs76784312
• ExAC: 5:149357444 A / C
• gnomAD v2: 5-149357444-A-C
• gnomAD v3: 5-149977881-A-C
• gnomAD v4: 5-149977881-A-C
• MyVariant Identifiers: chr5:g.149357444A>C (hg19) ; chr5:g.149977881A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149977881A>C , CM000667.2:g.149977881A>C	GRCh38
NC_000005.9:g.149357444A>C , CM000667.1:g.149357444A>C	GRCh37
NC_000005.8:g.149337637A>C	NCBI36
NG_007147.2:g.18999A>C , LRG_684:g.18999A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690410.1:n.461A>C
ENST00000286298.5:c.229A>C MANE Select	ENSP00000286298.4:p.Asn77His
ENST00000286298.4:c.229A>C	ENSP00000286298.4:p.Asn77His
NM_000112.3:c.229A>C , LRG_684t1:c.229A>C	NP_000103.2:p.Asn77His
XM_017009191.2:c.229A>C	XP_016864680.1:p.Asn77His
NM_000112.4:c.229A>C MANE Select	NP_000103.2:p.Asn77His