Canonical Allele Identifier: CA216361
Gene: GCM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 64538
ClinVar RCV Id: RCV000054725
dbSNP Id: rs387907431
ExAC: 6:10876229 A / G
gnomAD v2: 6-10876229-A-G
gnomAD v3: 6-10875996-A-G
gnomAD v4: 6-10875996-A-G
MyVariant Identifiers: chr6:g.10876229A>G (hg19) chr6:g.10875996A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10875996A>G , CM000668.2:g.10875996A>G GRCh38
NC_000006.11:g.10876229A>G , CM000668.1:g.10876229A>G GRCh37
NC_000006.10:g.10984215A>G NCBI36
NG_008970.1:g.10870T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379491.5:c.477T>C MANE Select ENSP00000368805.4:p.His159=
ENST00000379491.4:c.477T>C ENSP00000368805.4:p.His159=
ENST00000480294.1:c.101-15517A>G ENSP00000417929.1:n.101-15517A>G
NM_004752.3:c.477T>C NP_004743.1:p.His159=
XM_011514991.1:c.477T>C XP_011513293.1:p.His159=
NM_004752.4:c.477T>C MANE Select NP_004743.1:p.His159=
Search 100 bp 5'
Search 100 bp 3'