Canonical Allele Identifier: CA1047736178

Gene: LAMB2

Linked Data

• dbSNP Id: rs2045398587
• gnomAD v3: 3-49125195-T-C
• gnomAD v4: 3-49125195-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125195T>C , CM000665.2:g.49125195T>C	GRCh38
NC_000003.11:g.49162628T>C , CM000665.1:g.49162628T>C	GRCh37
NC_000003.10:g.49137632T>C	NCBI36
NG_008094.1:g.12972A>G
NG_054716.1:g.744A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2721-26A>G MANE Select	ENSP00000307156.4:n.2721-26A>G
ENST00000305544.8:c.2721-26A>G	ENSP00000307156.4:n.2721-26A>G
ENST00000418109.5:c.2721-26A>G	ENSP00000388325.1:n.2721-26A>G
ENST00000462930.5:n.128-26A>G
ENST00000464891.5:n.454-26A>G
ENST00000483057.1:n.321-26A>G
ENST00000486298.5:n.426-26A>G
ENST00000542580.1:n.10A>G
NM_002292.3:c.2721-26A>G	NP_002283.3:n.2721-26A>G
XM_005265127.3:c.2721-26A>G	XP_005265184.1:n.2721-26A>G
XM_005265127.4:c.2721-26A>G	XP_005265184.1:n.2721-26A>G
NM_002292.4:c.2721-26A>G MANE Select	NP_002283.3:n.2721-26A>G