Canonical Allele Identifier: CA3633934
Gene: GCM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 355008
dbSNP Id: rs142287570
gnomAD v2: 6-10874568-T-G
gnomAD v3: 6-10874335-T-G
gnomAD v4: 6-10874335-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10874335T>G , CM000668.2:g.10874335T>G GRCh38
NC_000006.11:g.10874568T>G , CM000668.1:g.10874568T>G GRCh37
NC_000006.10:g.10982554T>G NCBI36
NG_008970.1:g.12531A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379491.5:c.1181A>C MANE Select ENSP00000368805.4:p.Tyr394Ser
ENST00000379491.4:c.1181A>C ENSP00000368805.4:p.Tyr394Ser
ENST00000480294.1:c.101-17178T>G ENSP00000417929.1:n.101-17178T>G
NM_004752.3:c.1181A>C NP_004743.1:p.Tyr394Ser
XM_011514991.1:c.1181A>C XP_011513293.1:p.Tyr394Ser
NM_004752.4:c.1181A>C MANE Select NP_004743.1:p.Tyr394Ser