Canonical Allele Identifier: CA256445275

Gene: MCF2L

Linked Data

• dbSNP Id: rs985398351
• gnomAD v2: 13-113753072-G-A
• gnomAD v3: 13-113098758-G-A
• gnomAD v4: 13-113098758-G-A
• MyVariant Identifiers: chr13:g.113753072G>A (hg19) ; chr13:g.113098758G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113098758G>A , CM000675.2:g.113098758G>A	GRCh38
NC_000013.10:g.113753072G>A , CM000675.1:g.113753072G>A	GRCh37
NC_000013.9:g.112801073G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000420013.6:c.*1899G>A	ENSP00000404422.2:n.*1899G>A
ENST00000535094.7:c.*1899G>A MANE Select	ENSP00000440374.2:n.*1899G>A
ENST00000375604.6:c.*1899G>A	ENSP00000364754.3:n.*1899G>A
ENST00000397030.5:c.*2271G>A	ENSP00000380225.1:n.*2271G>A
NM_001112732.2:c.*1899G>A	NP_001106203.2:n.*1899G>A
NM_024979.4:c.*1899G>A	NP_079255.4:n.*1899G>A
NM_001320815.1:c.*1899G>A	NP_001307744.1:n.*1899G>A
NM_001320816.1:c.*1899G>A	NP_001307745.1:n.*1899G>A
NM_001366644.1:c.*1899G>A	NP_001353573.1:n.*1899G>A
NM_001366645.1:c.*1899G>A	NP_001353574.1:n.*1899G>A
NM_001366646.1:c.*1899G>A	NP_001353575.1:n.*1899G>A
NM_001112732.3:c.*1899G>A MANE Select	NP_001106203.2:n.*1899G>A
NM_001320815.2:c.*1899G>A	NP_001307744.1:n.*1899G>A
NM_001320816.2:c.*1899G>A	NP_001307745.1:n.*1899G>A
NM_001366644.2:c.*1899G>A	NP_001353573.1:n.*1899G>A
NM_001366645.2:c.*1899G>A	NP_001353574.1:n.*1899G>A
NM_001366646.2:c.*1899G>A	NP_001353575.1:n.*1899G>A