Canonical Allele Identifier: CA16044369
Gene: GCM2 HGNC NCBI

Linked Data

dbSNP Id: rs1057519581
gnomAD v4: 6-10874765-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10874765G>C , CM000668.2:g.10874765G>C GRCh38
NC_000006.11:g.10874998G>C , CM000668.1:g.10874998G>C GRCh37
NC_000006.10:g.10982984G>C NCBI36
NG_008970.1:g.12101C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379491.5:c.751C>G MANE Select ENSP00000368805.4:p.Gln251Glu
ENST00000379491.4:c.751C>G ENSP00000368805.4:p.Gln251Glu
ENST00000480294.1:c.101-16748G>C ENSP00000417929.1:n.101-16748G>C
NM_004752.3:c.751C>G NP_004743.1:p.Gln251Glu
XM_011514991.1:c.751C>G XP_011513293.1:p.Gln251Glu
NM_004752.4:c.751C>G MANE Select NP_004743.1:p.Gln251Glu