Canonical Allele Identifier: CA216373
Gene: GCM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 64544
ClinVar RCV Id: RCV000054731
dbSNP Id: rs387907427
MyVariant Identifiers: chr6:g.10874843T>A (hg19) chr6:g.10874610T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10874610T>A , CM000668.2:g.10874610T>A GRCh38
NC_000006.11:g.10874843T>A , CM000668.1:g.10874843T>A GRCh37
NC_000006.10:g.10982829T>A NCBI36
NG_008970.1:g.12256A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379491.5:c.906A>T MANE Select ENSP00000368805.4:p.Thr302=
ENST00000379491.4:c.906A>T ENSP00000368805.4:p.Thr302=
ENST00000480294.1:c.101-16903T>A ENSP00000417929.1:n.101-16903T>A
NM_004752.3:c.906A>T NP_004743.1:p.Thr302=
XM_011514991.1:c.906A>T XP_011513293.1:p.Thr302=
NM_004752.4:c.906A>T MANE Select NP_004743.1:p.Thr302=
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