Canonical Allele Identifier: CA2677313368
Gene: GCM2 HGNC NCBI

Linked Data

gnomAD v4: 6-10877117-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10877117T>A , CM000668.2:g.10877117T>A GRCh38
NC_000006.11:g.10877350T>A , CM000668.1:g.10877350T>A GRCh37
NC_000006.10:g.10985336T>A NCBI36
NG_008970.1:g.9749A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379491.5:c.343+23A>T MANE Select ENSP00000368805.4:n.343+23A>T
ENST00000379491.4:c.343+23A>T ENSP00000368805.4:n.343+23A>T
ENST00000480294.1:c.101-14396T>A ENSP00000417929.1:n.101-14396T>A
NM_004752.3:c.343+23A>T NP_004743.1:n.343+23A>T
XM_011514991.1:c.343+23A>T XP_011513293.1:n.343+23A>T
NM_004752.4:c.343+23A>T MANE Select NP_004743.1:n.343+23A>T