Canonical Allele Identifier: CA352720460

Gene: LAMB2

Linked Data

• dbSNP Id: rs767673623
• MyVariant Identifiers: chr3:g.49162870T>G (hg19) ; chr3:g.49125437T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125437T>G , CM000665.2:g.49125437T>G	GRCh38
NC_000003.11:g.49162870T>G , CM000665.1:g.49162870T>G	GRCh37
NC_000003.10:g.49137874T>G	NCBI36
NG_008094.1:g.12730A>C
NG_054716.1:g.502A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2536A>C MANE Select	ENSP00000307156.4:p.Thr846Pro
ENST00000305544.8:c.2536A>C	ENSP00000307156.4:p.Thr846Pro
ENST00000418109.5:c.2536A>C	ENSP00000388325.1:p.Thr846Pro
ENST00000464891.5:n.285A>C
ENST00000477701.1:n.409A>C
ENST00000483057.1:n.136A>C
ENST00000486298.5:n.426-268A>C
NM_002292.3:c.2536A>C	NP_002283.3:p.Thr846Pro
XM_005265127.3:c.2536A>C	XP_005265184.1:p.Thr846Pro
XM_005265127.4:c.2536A>C	XP_005265184.1:p.Thr846Pro
NM_002292.4:c.2536A>C MANE Select	NP_002283.3:p.Thr846Pro