Canonical Allele Identifier: CA56601546
Gene: MCM6 HGNC NCBI

Linked Data

dbSNP Id: rs527991977
gnomAD v2: 2-136608515-C-G
gnomAD v3: 2-135850945-C-G
gnomAD v4: 2-135850945-C-G
MyVariant Identifiers: chr2:g.136608515C>G (hg19) chr2:g.135850945C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135850945C>G , CM000664.2:g.135850945C>G GRCh38
NC_000002.11:g.136608515C>G , CM000664.1:g.136608515C>G GRCh37
NC_000002.10:g.136324985C>G NCBI36
NG_008104.2:g.9225G>C , LRG_338:g.9225G>C
NG_008958.1:g.30497G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264156.3:c.1917+457G>C MANE Select ENSP00000264156.2:n.1917+457G>C
ENST00000264156.2:c.1917+457G>C ENSP00000264156.2:n.1917+457G>C
ENST00000483902.1:n.544+457G>C
ENST00000492091.1:n.343+457G>C
NM_005915.5:c.1917+457G>C NP_005906.2:n.1917+457G>C
NM_005915.6:c.1917+457G>C MANE Select NP_005906.2:n.1917+457G>C
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