Canonical Allele Identifier: CA1047736189

Gene: LAMB2

Linked Data

• dbSNP Id: rs2045398988
• gnomAD v3: 3-49125219-C-T
• gnomAD v4: 3-49125219-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125219C>T , CM000665.2:g.49125219C>T	GRCh38
NC_000003.11:g.49162652C>T , CM000665.1:g.49162652C>T	GRCh37
NC_000003.10:g.49137656C>T	NCBI36
NG_008094.1:g.12948G>A
NG_054716.1:g.720G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2720+34G>A MANE Select	ENSP00000307156.4:n.2720+34G>A
ENST00000305544.8:c.2720+34G>A	ENSP00000307156.4:n.2720+34G>A
ENST00000418109.5:c.2720+34G>A	ENSP00000388325.1:n.2720+34G>A
ENST00000462930.5:n.127+34G>A
ENST00000464891.5:n.454-50G>A
ENST00000483057.1:n.320+34G>A
ENST00000486298.5:n.426-50G>A
NM_002292.3:c.2720+34G>A	NP_002283.3:n.2720+34G>A
XM_005265127.3:c.2720+34G>A	XP_005265184.1:n.2720+34G>A
XM_005265127.4:c.2720+34G>A	XP_005265184.1:n.2720+34G>A
NM_002292.4:c.2720+34G>A MANE Select	NP_002283.3:n.2720+34G>A