Canonical Allele Identifier: CA3633910

Gene: GCM2

Linked Data

• dbSNP Id: rs749101028
• ExAC: 6:10874470 G / C
• gnomAD v2: 6-10874470-G-C
• gnomAD v4: 6-10874237-G-C
• COSMIC: COSM450291
• MyVariant Identifiers: chr6:g.10874470G>C (hg19) ; chr6:g.10874237G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10874237G>C , CM000668.2:g.10874237G>C	GRCh38
NC_000006.11:g.10874470G>C , CM000668.1:g.10874470G>C	GRCh37
NC_000006.10:g.10982456G>C	NCBI36
NG_008970.1:g.12629C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000379491.5:c.1279C>G MANE Select	ENSP00000368805.4:p.Pro427Ala
ENST00000379491.4:c.1279C>G	ENSP00000368805.4:p.Pro427Ala
ENST00000480294.1:c.101-17276G>C	ENSP00000417929.1:n.101-17276G>C
NM_004752.3:c.1279C>G	NP_004743.1:p.Pro427Ala
XM_011514991.1:c.1279C>G	XP_011513293.1:p.Pro427Ala
NM_004752.4:c.1279C>G MANE Select	NP_004743.1:p.Pro427Ala