Canonical Allele Identifier: CA117937
Gene: GCM2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6092
ClinVar RCV Id: RCV000006465
dbSNP Id: rs104893960

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10877296C>T , CM000668.2:g.10877296C>T GRCh38
NC_000006.11:g.10877529C>T , CM000668.1:g.10877529C>T GRCh37
NC_000006.10:g.10985515C>T NCBI36
NG_008970.1:g.9570G>A

Transcript Alleles

HGVS Amino-acid change
NM_004752.3:c.187G>A VV NP_004743.1:p.Gly63Ser
XM_011514991.1:c.187G>A XP_011513293.1:p.Gly63Ser
ENST00000379491.4:c.187G>A ENSP00000368805.4:p.Gly63Ser
ENST00000480294.1:c.101-14217C>T ENSP00000417929.1:p.=