Canonical Allele Identifier: CA117937
Gene: GCM2 HGNC NCBI
ClinVar RCV:
RCV000006465
RCV002496283
ClinVar Variation:
6092
COSMIC:
COSM3154970
dbSNP:
104893960
gnomAD v2:
6:10877529 C / T
gnomAD v3:
6:10877296 C / T
gnomAD v4:
chr6-10877296-C-T
Joint Max Group AF 0.00001746 (AFR)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00000989 (AFR)
MyVariant.info:
GRCh38 chr6:g.10877296C>T
GRCh37 chr6:g.10877529C>T
Revel Score:
ENST00000379491 (MANE Select) 0.648
JSON-LD

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
ENST00000379491.5:c.187G>A MANE Select ENSP00000368805.4:p.Gly63Ser
ENST00000379491.4:c.187G>A ENSP00000368805.4:p.Gly63Ser
ENST00000480294.1:c.101-14217C>T ENSP00000417929.1:n.101-14217C>T
NM_004752.3:c.187G>A NP_004743.1:p.Gly63Ser
XM_011514991.1:c.187G>A XP_011513293.1:p.Gly63Ser
NM_004752.4:c.187G>A MANE Select NP_004743.1:p.Gly63Ser
Search 100 bp 5'
Search 100 bp 3'