Canonical Allele Identifier: CA3633938
Gene: GCM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 905291
ClinVar RCV Id: RCV001153741
dbSNP Id: rs759712994
ExAC: 6:10874587 T / C
gnomAD v2: 6-10874587-T-C
gnomAD v3: 6-10874354-T-C
gnomAD v4: 6-10874354-T-C
MyVariant Identifiers: chr6:g.10874587T>C (hg19) chr6:g.10874354T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10874354T>C , CM000668.2:g.10874354T>C GRCh38
NC_000006.11:g.10874587T>C , CM000668.1:g.10874587T>C GRCh37
NC_000006.10:g.10982573T>C NCBI36
NG_008970.1:g.12512A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379491.5:c.1162A>G MANE Select ENSP00000368805.4:p.Lys388Glu
ENST00000379491.4:c.1162A>G ENSP00000368805.4:p.Lys388Glu
ENST00000480294.1:c.101-17159T>C ENSP00000417929.1:n.101-17159T>C
NM_004752.3:c.1162A>G NP_004743.1:p.Lys388Glu
XM_011514991.1:c.1162A>G XP_011513293.1:p.Lys388Glu
NM_004752.4:c.1162A>G MANE Select NP_004743.1:p.Lys388Glu
Search 100 bp 5'
Search 100 bp 3'