Canonical Allele Identifier: CA362722661
Gene: GCM2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10874352T>A , CM000668.2:g.10874352T>A GRCh38
NC_000006.11:g.10874585T>A , CM000668.1:g.10874585T>A GRCh37
NC_000006.10:g.10982571T>A NCBI36
NG_008970.1:g.12514A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379491.5:c.1164A>T MANE Select ENSP00000368805.4:p.Lys388Asn
ENST00000379491.4:c.1164A>T ENSP00000368805.4:p.Lys388Asn
ENST00000480294.1:c.101-17161T>A ENSP00000417929.1:n.101-17161T>A
NM_004752.3:c.1164A>T NP_004743.1:p.Lys388Asn
XM_011514991.1:c.1164A>T XP_011513293.1:p.Lys388Asn
NM_004752.4:c.1164A>T MANE Select NP_004743.1:p.Lys388Asn