Canonical Allele Identifier: CA362722665
Gene: GCM2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10874353T>C , CM000668.2:g.10874353T>C GRCh38
NC_000006.11:g.10874586T>C , CM000668.1:g.10874586T>C GRCh37
NC_000006.10:g.10982572T>C NCBI36
NG_008970.1:g.12513A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379491.5:c.1163A>G MANE Select ENSP00000368805.4:p.Lys388Arg
ENST00000379491.4:c.1163A>G ENSP00000368805.4:p.Lys388Arg
ENST00000480294.1:c.101-17160T>C ENSP00000417929.1:n.101-17160T>C
NM_004752.3:c.1163A>G NP_004743.1:p.Lys388Arg
XM_011514991.1:c.1163A>G XP_011513293.1:p.Lys388Arg
NM_004752.4:c.1163A>G MANE Select NP_004743.1:p.Lys388Arg