Canonical Allele Identifier: CA216369
Gene: GCM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 64542
ClinVar RCV Id: RCV000054729
dbSNP Id: rs387907426
MyVariant Identifiers: chr6:g.10874916G>A (hg19) chr6:g.10874683G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10874683G>A , CM000668.2:g.10874683G>A GRCh38
NC_000006.11:g.10874916G>A , CM000668.1:g.10874916G>A GRCh37
NC_000006.10:g.10982902G>A NCBI36
NG_008970.1:g.12183C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379491.5:c.833C>T MANE Select ENSP00000368805.4:p.Ala278Val
ENST00000379491.4:c.833C>T ENSP00000368805.4:p.Ala278Val
ENST00000480294.1:c.101-16830G>A ENSP00000417929.1:n.101-16830G>A
NM_004752.3:c.833C>T NP_004743.1:p.Ala278Val
XM_011514991.1:c.833C>T XP_011513293.1:p.Ala278Val
NM_004752.4:c.833C>T MANE Select NP_004743.1:p.Ala278Val
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