Canonical Allele Identifier: CA370012030

Gene: SLC4A2

Linked Data

• MyVariant Identifiers: chr7:g.150763671G>C (hg19) ; chr7:g.151066584G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151066584G>C , CM000669.2:g.151066584G>C	GRCh38
NC_000007.13:g.150763671G>C , CM000669.1:g.150763671G>C	GRCh37
NC_000007.12:g.150394604G>C	NCBI36
NG_051947.1:g.13385G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413384.7:c.646G>C MANE Select	ENSP00000405600.2:p.Gly216Arg
ENST00000677246.1:c.646G>C	ENSP00000504447.1:p.Gly216Arg
ENST00000310317.9:c.400G>C	ENSP00000311402.5:p.Gly134Arg
ENST00000392826.6:c.619G>C	ENSP00000376571.2:p.Gly207Arg
ENST00000413384.6:c.646G>C	ENSP00000405600.2:p.Gly216Arg
ENST00000461735.1:c.604G>C	ENSP00000419164.1:p.Gly202Arg
ENST00000485713.5:c.646G>C	ENSP00000419412.1:p.Gly216Arg
NM_001199692.1:c.646G>C	NP_001186621.1:p.Gly216Arg
NM_001199693.1:c.619G>C	NP_001186622.1:p.Gly207Arg
NM_001199694.1:c.604G>C	NP_001186623.1:p.Gly202Arg
NM_003040.3:c.646G>C	NP_003031.3:p.Gly216Arg
XM_006716094.2:c.646G>C	XP_006716157.1:p.Gly216Arg
XM_011516497.1:c.646G>C	XP_011514799.1:p.Gly216Arg
NM_001199692.2:c.646G>C	NP_001186621.1:p.Gly216Arg
NM_001199694.2:c.604G>C	NP_001186623.1:p.Gly202Arg
XM_006716094.3:c.646G>C	XP_006716157.1:p.Gly216Arg
NM_003040.4:c.646G>C MANE Select	NP_003031.3:p.Gly216Arg
NM_001199692.3:c.646G>C	NP_001186621.1:p.Gly216Arg