Canonical Allele Identifier: CA12494206

Gene: MRM2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2238591C>T , CM000669.2:g.2238591C>T	GRCh38
NC_000007.13:g.2278226C>T , CM000669.1:g.2278226C>T	GRCh37
NC_000007.12:g.2244752C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242257.14:c.298+827G>A MANE Select	ENSP00000242257.8:n.298+827G>A
ENST00000651235.1:c.*177G>A	ENSP00000498895.1:n.*177G>A
ENST00000242257.12:c.298+827G>A	ENSP00000242257.8:n.298+827G>A
ENST00000407040.1:c.16+590G>A	ENSP00000384423.1:n.16+590G>A
ENST00000440306.3:c.298+827G>A	ENSP00000392343.3:n.298+827G>A
ENST00000467199.5:n.485+827G>A
ENST00000486040.1:n.665G>A
NM_013393.1:c.298+827G>A	NP_037525.1:n.298+827G>A
NM_013393.3:c.298+827G>A MANE Select	NP_037525.1:n.298+827G>A