Canonical Allele Identifier: CA3633983
Gene: GCM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 355011
ClinVar RCV Id: RCV000383068 RCV000960860
dbSNP Id: rs77910271
ExAC: 6:10874846 G / A
gnomAD v2: 6-10874846-G-A
gnomAD v3: 6-10874613-G-A
gnomAD v4: 6-10874613-G-A
MyVariant Identifiers: chr6:g.10874846G>A (hg19) chr6:g.10874613G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10874613G>A , CM000668.2:g.10874613G>A GRCh38
NC_000006.11:g.10874846G>A , CM000668.1:g.10874846G>A GRCh37
NC_000006.10:g.10982832G>A NCBI36
NG_008970.1:g.12253C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379491.5:c.903C>T MANE Select ENSP00000368805.4:p.Asp301=
ENST00000379491.4:c.903C>T ENSP00000368805.4:p.Asp301=
ENST00000480294.1:c.101-16900G>A ENSP00000417929.1:n.101-16900G>A
NM_004752.3:c.903C>T NP_004743.1:p.Asp301=
XM_011514991.1:c.903C>T XP_011513293.1:p.Asp301=
NM_004752.4:c.903C>T MANE Select NP_004743.1:p.Asp301=
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