Canonical Allele Identifier: CA362724665
Gene: GCM2 HGNC NCBI

Linked Data

gnomAD v4: 6-10877214-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10877214G>A , CM000668.2:g.10877214G>A GRCh38
NC_000006.11:g.10877447G>A , CM000668.1:g.10877447G>A GRCh37
NC_000006.10:g.10985433G>A NCBI36
NG_008970.1:g.9652C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379491.5:c.269C>T MANE Select ENSP00000368805.4:p.Ala90Val
ENST00000379491.4:c.269C>T ENSP00000368805.4:p.Ala90Val
ENST00000480294.1:c.101-14299G>A ENSP00000417929.1:n.101-14299G>A
NM_004752.3:c.269C>T NP_004743.1:p.Ala90Val
XM_011514991.1:c.269C>T XP_011513293.1:p.Ala90Val
NM_004752.4:c.269C>T MANE Select NP_004743.1:p.Ala90Val