Canonical Allele Identifier: CA216313

Gene: SLC4A2

Linked Data

• ClinVar Variation Id: 64512
• ClinVar RCV Id: RCV000054699
• dbSNP Id: rs387907526
• MyVariant Identifiers: chr7:g.150772749G>A (hg19) ; chr7:g.151075662G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151075662G>A , CM000669.2:g.151075662G>A	GRCh38
NC_000007.13:g.150772749G>A , CM000669.1:g.150772749G>A	GRCh37
NC_000007.12:g.150403682G>A	NCBI36
NG_051947.1:g.22463G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413384.7:c.3358G>A MANE Select	ENSP00000405600.2:p.Gly1120Arg
ENST00000677246.1:c.*494G>A	ENSP00000504447.1:n.*494G>A
ENST00000310317.9:c.3112G>A	ENSP00000311402.5:p.Gly1038Arg
ENST00000392826.6:c.3331G>A	ENSP00000376571.2:p.Gly1111Arg
ENST00000413384.6:c.3358G>A	ENSP00000405600.2:p.Gly1120Arg
ENST00000461735.1:c.3316G>A	ENSP00000419164.1:p.Gly1106Arg
ENST00000485713.5:c.3358G>A	ENSP00000419412.1:p.Gly1120Arg
NM_001199692.1:c.3358G>A	NP_001186621.1:p.Gly1120Arg
NM_001199693.1:c.3331G>A	NP_001186622.1:p.Gly1111Arg
NM_001199694.1:c.3316G>A	NP_001186623.1:p.Gly1106Arg
NM_003040.3:c.3358G>A	NP_003031.3:p.Gly1120Arg
XM_011516497.1:c.3358G>A	XP_011514799.1:p.Gly1120Arg
NM_001199692.2:c.3358G>A	NP_001186621.1:p.Gly1120Arg
NM_001199694.2:c.3316G>A	NP_001186623.1:p.Gly1106Arg
NM_003040.4:c.3358G>A MANE Select	NP_003031.3:p.Gly1120Arg
NM_001199692.3:c.3358G>A	NP_001186621.1:p.Gly1120Arg