Canonical Allele Identifier: CA1085958557
Gene: GCM2 HGNC NCBI

Linked Data

dbSNP Id: rs1779840990
gnomAD v3: 6-10874135-C-CA
gnomAD v4: 6-10874135-C-CA
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10874136dup , CM000668.2:g.10874136dup GRCh38
NC_000006.11:g.10874369dup , CM000668.1:g.10874369dup GRCh37
NC_000006.10:g.10982355dup NCBI36
NG_008970.1:g.12730dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379491.5:c.1380dup MANE Select ENSP00000368805.4:p.Val461CysfsTer11
ENST00000379491.4:c.1380dup ENSP00000368805.4:p.Val461CysfsTer11
ENST00000480294.1:c.101-17377dup ENSP00000417929.1:n.101-17377dup
NM_004752.3:c.1380dup NP_004743.1:p.Val461CysfsTer11
XM_011514991.1:c.1380dup XP_011513293.1:p.Val461CysfsTer11
NM_004752.4:c.1380dup MANE Select NP_004743.1:p.Val461CysfsTer11
Search 100 bp 5'
Search 100 bp 3'