Canonical Allele Identifier: CA2394191

Gene: LAMB2

Linked Data

• dbSNP Id: rs761787675
• ExAC: 3:49162451 C / G
• gnomAD v2: 3-49162451-C-G
• gnomAD v4: 3-49125018-C-G
• MyVariant Identifiers: chr3:g.49162451C>G (hg19) ; chr3:g.49125018C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125018C>G , CM000665.2:g.49125018C>G	GRCh38
NC_000003.11:g.49162451C>G , CM000665.1:g.49162451C>G	GRCh37
NC_000003.10:g.49137455C>G	NCBI36
NG_008094.1:g.13149G>C
NG_054716.1:g.921G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2872G>C MANE Select	ENSP00000307156.4:p.Ala958Pro
ENST00000305544.8:c.2872G>C	ENSP00000307156.4:p.Ala958Pro
ENST00000418109.5:c.2872G>C	ENSP00000388325.1:p.Ala958Pro
ENST00000462930.5:n.279G>C
ENST00000464891.5:n.605G>C
ENST00000483057.1:n.472G>C
ENST00000486298.5:n.577G>C
ENST00000542580.1:n.187G>C
NM_002292.3:c.2872G>C	NP_002283.3:p.Ala958Pro
XM_005265127.3:c.2872G>C	XP_005265184.1:p.Ala958Pro
XM_005265127.4:c.2872G>C	XP_005265184.1:p.Ala958Pro
NM_002292.4:c.2872G>C MANE Select	NP_002283.3:p.Ala958Pro