Canonical Allele Identifier: CA536399242

Gene: MCM6

Linked Data

• dbSNP Id: rs41380347
• gnomAD v2: 2-136608651-A-G
• gnomAD v3: 2-135851081-A-G
• gnomAD v4: 2-135851081-A-G
• MyVariant Identifiers: chr2:g.136608651A>G (hg19) ; chr2:g.135851081A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135851081A>G , CM000664.2:g.135851081A>G	GRCh38
NC_000002.11:g.136608651A>G , CM000664.1:g.136608651A>G	GRCh37
NC_000002.10:g.136325121A>G	NCBI36
NG_008104.2:g.9089T>C , LRG_338:g.9089T>C
NG_008958.1:g.30361T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264156.3:c.1917+321T>C MANE Select	ENSP00000264156.2:n.1917+321T>C
ENST00000264156.2:c.1917+321T>C	ENSP00000264156.2:n.1917+321T>C
ENST00000483902.1:n.544+321T>C
ENST00000492091.1:n.343+321T>C
NM_005915.5:c.1917+321T>C	NP_005906.2:n.1917+321T>C
NM_005915.6:c.1917+321T>C MANE Select	NP_005906.2:n.1917+321T>C