Canonical Allele Identifier: CA448719071
Gene: GCM2 HGNC NCBI

Linked Data

dbSNP Id: rs1476232807
gnomAD v2: 6-10874591-G-T
MyVariant Identifiers: chr6:g.10874591G>T (hg19) chr6:g.10874358G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10874358G>T , CM000668.2:g.10874358G>T GRCh38
NC_000006.11:g.10874591G>T , CM000668.1:g.10874591G>T GRCh37
NC_000006.10:g.10982577G>T NCBI36
NG_008970.1:g.12508C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379491.5:c.1158C>A MANE Select ENSP00000368805.4:p.Thr386=
ENST00000379491.4:c.1158C>A ENSP00000368805.4:p.Thr386=
ENST00000480294.1:c.101-17155G>T ENSP00000417929.1:n.101-17155G>T
NM_004752.3:c.1158C>A NP_004743.1:p.Thr386=
XM_011514991.1:c.1158C>A XP_011513293.1:p.Thr386=
NM_004752.4:c.1158C>A MANE Select NP_004743.1:p.Thr386=
Search 100 bp 5'
Search 100 bp 3'