Canonical Allele Identifier: CA352717306

Gene: LAMB2

Linked Data

• dbSNP Id: rs1575533086
• MyVariant Identifiers: chr3:g.49162579T>G (hg19) ; chr3:g.49125146T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125146T>G , CM000665.2:g.49125146T>G	GRCh38
NC_000003.11:g.49162579T>G , CM000665.1:g.49162579T>G	GRCh37
NC_000003.10:g.49137583T>G	NCBI36
NG_008094.1:g.13021A>C
NG_054716.1:g.793A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2744A>C MANE Select	ENSP00000307156.4:p.Asp915Ala
ENST00000305544.8:c.2744A>C	ENSP00000307156.4:p.Asp915Ala
ENST00000418109.5:c.2744A>C	ENSP00000388325.1:p.Asp915Ala
ENST00000462930.5:n.151A>C
ENST00000464891.5:n.477A>C
ENST00000483057.1:n.344A>C
ENST00000486298.5:n.449A>C
ENST00000542580.1:n.59A>C
NM_002292.3:c.2744A>C	NP_002283.3:p.Asp915Ala
XM_005265127.3:c.2744A>C	XP_005265184.1:p.Asp915Ala
XM_005265127.4:c.2744A>C	XP_005265184.1:p.Asp915Ala
NM_002292.4:c.2744A>C MANE Select	NP_002283.3:p.Asp915Ala