Canonical Allele Identifier: CA2756174173

Gene: LAMB2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125246G>A , CM000665.2:g.49125246G>A	GRCh38
NC_000003.11:g.49162679G>A , CM000665.1:g.49162679G>A	GRCh37
NC_000003.10:g.49137683G>A	NCBI36
NG_008094.1:g.12921C>T
NG_054716.1:g.693C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2720+7C>T MANE Select	ENSP00000307156.4:n.2720+7C>T
ENST00000305544.8:c.2720+7C>T	ENSP00000307156.4:n.2720+7C>T
ENST00000418109.5:c.2720+7C>T	ENSP00000388325.1:n.2720+7C>T
ENST00000462930.5:n.127+7C>T
ENST00000464891.5:n.453+23C>T
ENST00000483057.1:n.320+7C>T
ENST00000486298.5:n.426-77C>T
NM_002292.3:c.2720+7C>T	NP_002283.3:n.2720+7C>T
XM_005265127.3:c.2720+7C>T	XP_005265184.1:n.2720+7C>T
XM_005265127.4:c.2720+7C>T	XP_005265184.1:n.2720+7C>T
NM_002292.4:c.2720+7C>T MANE Select	NP_002283.3:n.2720+7C>T