Canonical Allele Identifier: CA15128165

Gene: CIMAP2

Linked Data

• dbSNP Id: rs669001
• gnomAD v2: 1-55300501-G-A
• gnomAD v3: 1-54834828-G-A
• gnomAD v4: 1-54834828-G-A
• MyVariant Identifiers: chr1:g.55300501G>A (hg19) ; chr1:g.54834828G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54834828G>A , CM000663.2:g.54834828G>A	GRCh38
NC_000001.10:g.55300501G>A , CM000663.1:g.55300501G>A	GRCh37
NC_000001.9:g.55073089G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371273.4:c.1185-6973G>A MANE Select	ENSP00000360320.3:n.1185-6973G>A
ENST00000358193.7:c.1185-6788G>A	ENSP00000350924.3:n.1185-6788G>A
ENST00000371273.3:c.1185-6973G>A	ENSP00000360320.3:n.1185-6973G>A
NM_001110533.1:c.1185-6973G>A	NP_001104003.1:n.1185-6973G>A
NM_152607.2:c.1185-6788G>A	NP_689820.2:n.1185-6788G>A
XM_011540842.1:c.1247-2418G>A	XP_011539144.1:n.1247-2418G>A
XM_017000481.1:c.1185-2418G>A	XP_016855970.1:n.1185-2418G>A
XR_001737006.1:n.1239-6973G>A
XR_001737007.1:n.1239-6788G>A
NM_152607.3:c.1185-6788G>A	NP_689820.2:n.1185-6788G>A
NM_001110533.2:c.1185-6973G>A MANE Select	NP_001104003.1:n.1185-6973G>A