Canonical Allele Identifier: CA3633894
Gene: GCM2 HGNC NCBI

Linked Data

dbSNP Id: rs774218255
gnomAD v2: 6-10874386-G-A
gnomAD v3: 6-10874153-G-A
gnomAD v4: 6-10874153-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10874153G>A , CM000668.2:g.10874153G>A GRCh38
NC_000006.11:g.10874386G>A , CM000668.1:g.10874386G>A GRCh37
NC_000006.10:g.10982372G>A NCBI36
NG_008970.1:g.12713C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379491.5:c.1363C>T MANE Select ENSP00000368805.4:p.Arg455Trp
ENST00000379491.4:c.1363C>T ENSP00000368805.4:p.Arg455Trp
ENST00000480294.1:c.101-17360G>A ENSP00000417929.1:n.101-17360G>A
NM_004752.3:c.1363C>T NP_004743.1:p.Arg455Trp
XM_011514991.1:c.1363C>T XP_011513293.1:p.Arg455Trp
NM_004752.4:c.1363C>T MANE Select NP_004743.1:p.Arg455Trp