Canonical Allele Identifier: CA447401974

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 2950062
• ClinVar RCV Id: RCV003807420
• MyVariant Identifiers: chr5:g.149357587C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149978024C>G , CM000667.2:g.149978024C>G	GRCh38
NC_000005.9:g.149357587C>G , CM000667.1:g.149357587C>G	GRCh37
NC_000005.8:g.149337780C>G	NCBI36
NG_007147.2:g.19142C>G , LRG_684:g.19142C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690410.1:n.604C>G
ENST00000286298.5:c.372C>G MANE Select	ENSP00000286298.4:p.Pro124=
ENST00000286298.4:c.372C>G	ENSP00000286298.4:p.Pro124=
ENST00000503336.1:c.45C>G	ENSP00000426053.1:p.Pro15=
NM_000112.3:c.372C>G , LRG_684t1:c.372C>G	NP_000103.2:p.Pro124=
XM_017009191.2:c.372C>G	XP_016864680.1:p.Pro124=
NM_000112.4:c.372C>G MANE Select	NP_000103.2:p.Pro124=