Canonical Allele Identifier: CA565827546
Gene: GCM2 HGNC NCBI

Linked Data

dbSNP Id: rs1483750460
gnomAD v2: 6-10877359-C-T
gnomAD v3: 6-10877126-C-T
gnomAD v4: 6-10877126-C-T
MyVariant Identifiers: chr6:g.10877359C>T (hg19) chr6:g.10877126C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10877126C>T , CM000668.2:g.10877126C>T GRCh38
NC_000006.11:g.10877359C>T , CM000668.1:g.10877359C>T GRCh37
NC_000006.10:g.10985345C>T NCBI36
NG_008970.1:g.9740G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379491.5:c.343+14G>A MANE Select ENSP00000368805.4:n.343+14G>A
ENST00000379491.4:c.343+14G>A ENSP00000368805.4:n.343+14G>A
ENST00000480294.1:c.101-14387C>T ENSP00000417929.1:n.101-14387C>T
NM_004752.3:c.343+14G>A NP_004743.1:n.343+14G>A
XM_011514991.1:c.343+14G>A XP_011513293.1:n.343+14G>A
NM_004752.4:c.343+14G>A MANE Select NP_004743.1:n.343+14G>A
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