Canonical Allele Identifier: CA2393801

Gene: LAMB2

Linked Data

• dbSNP Id: rs759732293
• ExAC: 3:49160326 C / A
• gnomAD v2: 3-49160326-C-A
• gnomAD v4: 3-49122893-C-A
• MyVariant Identifiers: chr3:g.49160326C>A (hg19) ; chr3:g.49122893C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49122893C>A , CM000665.2:g.49122893C>A	GRCh38
NC_000003.11:g.49160326C>A , CM000665.1:g.49160326C>A	GRCh37
NC_000003.10:g.49135330C>A	NCBI36
NG_008094.1:g.15274G>T
NG_054716.1:g.3046G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4384G>T MANE Select	ENSP00000307156.4:p.Glu1462Ter
ENST00000305544.8:c.4384G>T	ENSP00000307156.4:p.Glu1462Ter
ENST00000418109.5:c.4384G>T	ENSP00000388325.1:p.Glu1462Ter
ENST00000469665.1:n.693G>T
NM_002292.3:c.4384G>T	NP_002283.3:p.Glu1462Ter
XM_005265127.3:c.4384G>T	XP_005265184.1:p.Glu1462Ter
XM_005265127.4:c.4384G>T	XP_005265184.1:p.Glu1462Ter
NM_002292.4:c.4384G>T MANE Select	NP_002283.3:p.Glu1462Ter