Canonical Allele Identifier: CA351544

Gene: CPXM2

Linked Data

• ClinVar Variation Id: 221324
• ClinVar RCV Id: RCV000207192
• dbSNP Id: rs869025241
• MyVariant Identifiers: chr10:g.125622146C>T (hg19) ; chr10:g.123862630C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.123862630C>T , CM000672.2:g.123862630C>T	GRCh38
NC_000010.10:g.125622146C>T , CM000672.1:g.125622146C>T	GRCh37
NC_000010.9:g.125612136C>T	NCBI36
NG_052814.1:g.86465G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241305.4:c.497G>A MANE Select	ENSP00000241305.3:p.Gly166Glu
ENST00000241305.3:c.497G>A	ENSP00000241305.3:p.Gly166Glu
ENST00000368854.7:n.367G>A
ENST00000615851.4:c.-1016G>A	ENSP00000483180.1:n.-1016G>A
NM_198148.2:c.497G>A	NP_937791.2:p.Gly166Glu
XM_005269528.2:c.497G>A	XP_005269585.1:p.Gly166Glu
XM_011539283.1:c.497G>A	XP_011537585.1:p.Gly166Glu
XM_011539284.1:c.497G>A	XP_011537586.1:p.Gly166Glu
XM_011539285.1:c.170G>A	XP_011537587.1:p.Gly57Glu
XM_011539286.1:c.-185G>A	XP_011537588.1:n.-185G>A
XM_005269528.3:c.497G>A	XP_005269585.1:p.Gly166Glu
XM_011539283.2:c.497G>A	XP_011537585.1:p.Gly166Glu
XM_011539285.2:c.170G>A	XP_011537587.1:p.Gly57Glu
XM_017015673.1:c.170G>A	XP_016871162.1:p.Gly57Glu
NM_198148.3:c.497G>A MANE Select	NP_937791.2:p.Gly166Glu