Canonical Allele Identifier: CA117936
Gene: GCM2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.10877343C>A
GRCh37 chr6:g.10877576C>A
Revel Score:
ENST00000379491 (MANE Select) 0.758
gnomAD v2:
6:10877576 C / A
gnomAD v4:
chr6-10877343-C-A
Joint Max Group AF 0.00013603 (SAS)
Exomes Max Group AF 0.00014347 (SAS)
ClinVar RCV:
RCV000006464
ClinVar Variation:
6091
dbSNP:
104893959
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10877343C>A , CM000668.2:g.10877343C>A GRCh38
NC_000006.11:g.10877576C>A , CM000668.1:g.10877576C>A GRCh37
NC_000006.10:g.10985562C>A NCBI36
NG_008970.1:g.9523G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379491.5:c.140G>T MANE Select ENSP00000368805.4:p.Arg47Leu
ENST00000379491.4:c.140G>T ENSP00000368805.4:p.Arg47Leu
ENST00000480294.1:c.101-14170C>A ENSP00000417929.1:n.101-14170C>A
NM_004752.3:c.140G>T NP_004743.1:p.Arg47Leu
XM_011514991.1:c.140G>T XP_011513293.1:p.Arg47Leu
NM_004752.4:c.140G>T MANE Select NP_004743.1:p.Arg47Leu
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