Canonical Allele Identifier: CA2394199

Gene: LAMB2

Linked Data

• dbSNP Id: rs749808119
• ExAC: 3:49162504 G / A
• gnomAD v2: 3-49162504-G-A
• gnomAD v4: 3-49125071-G-A
• MyVariant Identifiers: chr3:g.49162504G>A (hg19) ; chr3:g.49125071G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125071G>A , CM000665.2:g.49125071G>A	GRCh38
NC_000003.11:g.49162504G>A , CM000665.1:g.49162504G>A	GRCh37
NC_000003.10:g.49137508G>A	NCBI36
NG_008094.1:g.13096C>T
NG_054716.1:g.868C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000305544.9:c.2819C>T MANE Select	ENSP00000307156.4:p.Ala940Val
ENST00000305544.8:c.2819C>T	ENSP00000307156.4:p.Ala940Val
ENST00000418109.5:c.2819C>T	ENSP00000388325.1:p.Ala940Val
ENST00000462930.5:n.226C>T
ENST00000464891.5:n.552C>T
ENST00000483057.1:n.419C>T
ENST00000486298.5:n.524C>T
ENST00000542580.1:n.134C>T
NM_002292.3:c.2819C>T	NP_002283.3:p.Ala940Val
XM_005265127.3:c.2819C>T	XP_005265184.1:p.Ala940Val
XM_005265127.4:c.2819C>T	XP_005265184.1:p.Ala940Val
NM_002292.4:c.2819C>T MANE Select	NP_002283.3:p.Ala940Val