Canonical Allele Identifier: CA241280

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 195017
• ClinVar RCV Id: RCV000175525 ; RCV001493097
• dbSNP Id: rs372345029
• gnomAD v2: 5-149357239-A-G
• gnomAD v3: 5-149977676-A-G
• gnomAD v4: 5-149977676-A-G
• MyVariant Identifiers: chr5:g.149357239A>G (hg19) ; chr5:g.149977676A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149977676A>G , CM000667.2:g.149977676A>G	GRCh38
NC_000005.9:g.149357239A>G , CM000667.1:g.149357239A>G	GRCh37
NC_000005.8:g.149337432A>G	NCBI36
NG_007147.2:g.18794A>G , LRG_684:g.18794A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690410.1:n.256A>G
ENST00000286298.5:c.24A>G MANE Select	ENSP00000286298.4:p.Gln8=
ENST00000286298.4:c.24A>G	ENSP00000286298.4:p.Gln8=
ENST00000433184.1:c.24A>G	ENSP00000405496.1:p.Gln8=
NM_000112.3:c.24A>G , LRG_684t1:c.24A>G	NP_000103.2:p.Gln8=
XM_017009191.2:c.24A>G	XP_016864680.1:p.Gln8=
NM_000112.4:c.24A>G MANE Select	NP_000103.2:p.Gln8=