Canonical Allele Identifier: CA118998
Gene: MCM6 HGNC NCBI
ClinVar RCV:
RCV000008124
ClinVar Variation:
7685
dbSNP:
4988235
gnomAD v2:
2:136608646 G / A
gnomAD v3:
2:135851076 G / A
gnomAD v4:
chr2-135851076-G-A
Joint Max Group AF 0.63026257 (NFE)
Genomes Max Group AF 0.63026257 (NFE)
MyVariant.info:
GRCh38 chr2:g.135851076G>A
GRCh37 chr2:g.136608646G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135851076G>A , CM000664.2:g.135851076G>A GRCh38
NC_000002.11:g.136608646G>A , CM000664.1:g.136608646G>A GRCh37
NC_000002.10:g.136325116G>A NCBI36
NG_008104.2:g.9094C>T , LRG_338:g.9094C>T
NG_008958.1:g.30366C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264156.3:c.1917+326C>T MANE Select ENSP00000264156.2:n.1917+326C>T
ENST00000264156.2:c.1917+326C>T ENSP00000264156.2:n.1917+326C>T
ENST00000483902.1:n.544+326C>T
ENST00000492091.1:n.343+326C>T
NM_005915.5:c.1917+326C>T NP_005906.2:n.1917+326C>T
NM_005915.6:c.1917+326C>T MANE Select NP_005906.2:n.1917+326C>T
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