Canonical Allele Identifier: CA3633911

Gene: GCM2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000379491.5:c.1279C>T MANE Select	ENSP00000368805.4:p.Pro427Ser
ENST00000379491.4:c.1279C>T	ENSP00000368805.4:p.Pro427Ser
ENST00000480294.1:c.101-17276G>A	ENSP00000417929.1:n.101-17276G>A
NM_004752.3:c.1279C>T	NP_004743.1:p.Pro427Ser
XM_011514991.1:c.1279C>T	XP_011513293.1:p.Pro427Ser
NM_004752.4:c.1279C>T MANE Select	NP_004743.1:p.Pro427Ser