Canonical Allele Identifier: CA565827489
Gene: GCM2 HGNC NCBI

Linked Data

dbSNP Id: rs1302964999
gnomAD v2: 6-10874380-TGGCCCG-T
MyVariant Identifiers: chr6:g.10874381_10874386del (hg19) chr6:g.10874148_10874153del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10874149_10874154del , CM000668.2:g.10874149_10874154del GRCh38
NC_000006.11:g.10874382_10874387del , CM000668.1:g.10874382_10874387del GRCh37
NC_000006.10:g.10982368_10982373del NCBI36
NG_008970.1:g.12713_12718del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379491.5:c.1363_1368del MANE Select ENSP00000368805.4:p.Arg455_Ala456del
ENST00000379491.4:c.1363_1368del ENSP00000368805.4:p.Arg455_Ala456del
ENST00000480294.1:c.101-17364_101-17359del ENSP00000417929.1:n.101-17364_101-17359del
NM_004752.3:c.1363_1368del NP_004743.1:p.Arg455_Ala456del
XM_011514991.1:c.1363_1368del XP_011513293.1:p.Arg455_Ala456del
NM_004752.4:c.1363_1368del MANE Select NP_004743.1:p.Arg455_Ala456del
Search 100 bp 5'
Search 100 bp 3'