Canonical Allele Identifier: CA216315

Gene: SLC4A2

Linked Data

• ClinVar Variation Id: 64513
• ClinVar RCV Id: RCV000054700
• dbSNP Id: rs387907522
• MyVariant Identifiers: chr7:g.150773102C>T (hg19) ; chr7:g.151076015C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151076015C>T , CM000669.2:g.151076015C>T	GRCh38
NC_000007.13:g.150773102C>T , CM000669.1:g.150773102C>T	GRCh37
NC_000007.12:g.150404035C>T	NCBI36
NG_051947.1:g.22816C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413384.7:c.3474C>T MANE Select	ENSP00000405600.2:p.Val1158=
ENST00000677246.1:c.*610C>T	ENSP00000504447.1:n.*610C>T
ENST00000310317.9:c.3228C>T	ENSP00000311402.5:p.Val1076=
ENST00000392826.6:c.3447C>T	ENSP00000376571.2:p.Val1149=
ENST00000413384.6:c.3474C>T	ENSP00000405600.2:p.Val1158=
ENST00000461735.1:c.3432C>T	ENSP00000419164.1:p.Val1144=
ENST00000469467.1:n.33C>T
ENST00000485713.5:c.3474C>T	ENSP00000419412.1:p.Val1158=
NM_001199692.1:c.3474C>T	NP_001186621.1:p.Val1158=
NM_001199693.1:c.3447C>T	NP_001186622.1:p.Val1149=
NM_001199694.1:c.3432C>T	NP_001186623.1:p.Val1144=
NM_003040.3:c.3474C>T	NP_003031.3:p.Val1158=
XM_011516497.1:c.3474C>T	XP_011514799.1:p.Val1158=
NM_001199692.2:c.3474C>T	NP_001186621.1:p.Val1158=
NM_001199694.2:c.3432C>T	NP_001186623.1:p.Val1144=
NM_003040.4:c.3474C>T MANE Select	NP_003031.3:p.Val1158=
NM_001199692.3:c.3474C>T	NP_001186621.1:p.Val1158=