Canonical Allele Identifier: CA2394206

Gene: LAMB2

Linked Data

• dbSNP Id: rs768513762
• ExAC: 3:49162540 G / A
• gnomAD v2: 3-49162540-G-A
• gnomAD v4: 3-49125107-G-A
• MyVariant Identifiers: chr3:g.49162540G>A (hg19) ; chr3:g.49125107G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125107G>A , CM000665.2:g.49125107G>A	GRCh38
NC_000003.11:g.49162540G>A , CM000665.1:g.49162540G>A	GRCh37
NC_000003.10:g.49137544G>A	NCBI36
NG_008094.1:g.13060C>T
NG_054716.1:g.832C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2783C>T MANE Select	ENSP00000307156.4:p.Pro928Leu
ENST00000305544.8:c.2783C>T	ENSP00000307156.4:p.Pro928Leu
ENST00000418109.5:c.2783C>T	ENSP00000388325.1:p.Pro928Leu
ENST00000462930.5:n.190C>T
ENST00000464891.5:n.516C>T
ENST00000483057.1:n.383C>T
ENST00000486298.5:n.488C>T
ENST00000542580.1:n.98C>T
NM_002292.3:c.2783C>T	NP_002283.3:p.Pro928Leu
XM_005265127.3:c.2783C>T	XP_005265184.1:p.Pro928Leu
XM_005265127.4:c.2783C>T	XP_005265184.1:p.Pro928Leu
NM_002292.4:c.2783C>T MANE Select	NP_002283.3:p.Pro928Leu