Canonical Allele Identifier: CA352716265

Gene: LAMB2

Linked Data

• gnomAD v4: 3-49125059-T-A
• MyVariant Identifiers: chr3:g.49162492T>A (hg19) ; chr3:g.49125059T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125059T>A , CM000665.2:g.49125059T>A	GRCh38
NC_000003.11:g.49162492T>A , CM000665.1:g.49162492T>A	GRCh37
NC_000003.10:g.49137496T>A	NCBI36
NG_008094.1:g.13108A>T
NG_054716.1:g.880A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000305544.9:c.2831A>T MANE Select	ENSP00000307156.4:p.His944Leu
ENST00000305544.8:c.2831A>T	ENSP00000307156.4:p.His944Leu
ENST00000418109.5:c.2831A>T	ENSP00000388325.1:p.His944Leu
ENST00000462930.5:n.238A>T
ENST00000464891.5:n.564A>T
ENST00000483057.1:n.431A>T
ENST00000486298.5:n.536A>T
ENST00000542580.1:n.146A>T
NM_002292.3:c.2831A>T	NP_002283.3:p.His944Leu
XM_005265127.3:c.2831A>T	XP_005265184.1:p.His944Leu
XM_005265127.4:c.2831A>T	XP_005265184.1:p.His944Leu
NM_002292.4:c.2831A>T MANE Select	NP_002283.3:p.His944Leu