Canonical Allele Identifier: CA3633892
Gene: GCM2 HGNC NCBI

Linked Data

dbSNP Id: rs555770771
ExAC: 6:10874373 G / T
gnomAD v2: 6-10874373-G-T
gnomAD v3: 6-10874140-G-T
gnomAD v4: 6-10874140-G-T
MyVariant Identifiers: chr6:g.10874373G>T (hg19) chr6:g.10874140G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10874140G>T , CM000668.2:g.10874140G>T GRCh38
NC_000006.11:g.10874373G>T , CM000668.1:g.10874373G>T GRCh37
NC_000006.10:g.10982359G>T NCBI36
NG_008970.1:g.12726C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379491.5:c.1376C>A MANE Select ENSP00000368805.4:p.Pro459His
ENST00000379491.4:c.1376C>A ENSP00000368805.4:p.Pro459His
ENST00000480294.1:c.101-17373G>T ENSP00000417929.1:n.101-17373G>T
NM_004752.3:c.1376C>A NP_004743.1:p.Pro459His
XM_011514991.1:c.1376C>A XP_011513293.1:p.Pro459His
NM_004752.4:c.1376C>A MANE Select NP_004743.1:p.Pro459His
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