Canonical Allele Identifier: CA352718426

Gene: LAMB2

Linked Data

• dbSNP Id: rs1575533288
• MyVariant Identifiers: chr3:g.49162744T>G (hg19) ; chr3:g.49125311T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125311T>G , CM000665.2:g.49125311T>G	GRCh38
NC_000003.11:g.49162744T>G , CM000665.1:g.49162744T>G	GRCh37
NC_000003.10:g.49137748T>G	NCBI36
NG_008094.1:g.12856A>C
NG_054716.1:g.628A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2662A>C MANE Select	ENSP00000307156.4:p.Thr888Pro
ENST00000305544.8:c.2662A>C	ENSP00000307156.4:p.Thr888Pro
ENST00000418109.5:c.2662A>C	ENSP00000388325.1:p.Thr888Pro
ENST00000462930.5:n.69A>C
ENST00000464891.5:n.411A>C
ENST00000477701.1:n.535A>C
ENST00000483057.1:n.262A>C
ENST00000486298.5:n.426-142A>C
NM_002292.3:c.2662A>C	NP_002283.3:p.Thr888Pro
XM_005265127.3:c.2662A>C	XP_005265184.1:p.Thr888Pro
XM_005265127.4:c.2662A>C	XP_005265184.1:p.Thr888Pro
NM_002292.4:c.2662A>C MANE Select	NP_002283.3:p.Thr888Pro