Canonical Allele Identifier: CA4124169

Gene: MRM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2242161C>A , CM000669.2:g.2242161C>A	GRCh38
NC_000007.13:g.2281796C>A , CM000669.1:g.2281796C>A	GRCh37
NC_000007.12:g.2248322C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_013393.3:c.8+1G>T MANE Select	NP_037525.1:n.8+1G>T
ENST00000242257.14:c.8+1G>T MANE Select	ENSP00000242257.8:n.8+1G>T
NM_013393.1:c.8+1G>T	NP_037525.1:n.8+1G>T
ENST00000242257.12:c.8+1G>T	ENSP00000242257.8:n.8+1G>T
ENST00000467199.5:n.9G>T
ENST00000486040.1:n.28+1G>T
ENST00000651235.1:c.8+1G>T	ENSP00000498895.1:n.8+1G>T