Canonical Allele Identifier: CA362722656
Gene: GCM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1992365
ClinVar RCV Id: RCV002795922
MyVariant Identifiers: chr6:g.10874583A>G (hg19) chr6:g.10874350A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10874350A>G , CM000668.2:g.10874350A>G GRCh38
NC_000006.11:g.10874583A>G , CM000668.1:g.10874583A>G GRCh37
NC_000006.10:g.10982569A>G NCBI36
NG_008970.1:g.12516T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379491.5:c.1166T>C MANE Select ENSP00000368805.4:p.Val389Ala
ENST00000379491.4:c.1166T>C ENSP00000368805.4:p.Val389Ala
ENST00000480294.1:c.101-17163A>G ENSP00000417929.1:n.101-17163A>G
NM_004752.3:c.1166T>C NP_004743.1:p.Val389Ala
XM_011514991.1:c.1166T>C XP_011513293.1:p.Val389Ala
NM_004752.4:c.1166T>C MANE Select NP_004743.1:p.Val389Ala
Search 100 bp 5'
Search 100 bp 3'