Canonical Allele Identifier: CA352720742

Gene: LAMB2

Linked Data

• MyVariant Identifiers: chr3:g.49162890A>C (hg19) ; chr3:g.49125457A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125457A>C , CM000665.2:g.49125457A>C	GRCh38
NC_000003.11:g.49162890A>C , CM000665.1:g.49162890A>C	GRCh37
NC_000003.10:g.49137894A>C	NCBI36
NG_008094.1:g.12710T>G
NG_054716.1:g.482T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2516T>G MANE Select	ENSP00000307156.4:p.Leu839Arg
ENST00000305544.8:c.2516T>G	ENSP00000307156.4:p.Leu839Arg
ENST00000418109.5:c.2516T>G	ENSP00000388325.1:p.Leu839Arg
ENST00000464891.5:n.265T>G
ENST00000477701.1:n.389T>G
ENST00000483057.1:n.116T>G
ENST00000486298.5:n.426-288T>G
NM_002292.3:c.2516T>G	NP_002283.3:p.Leu839Arg
XM_005265127.3:c.2516T>G	XP_005265184.1:p.Leu839Arg
XM_005265127.4:c.2516T>G	XP_005265184.1:p.Leu839Arg
NM_002292.4:c.2516T>G MANE Select	NP_002283.3:p.Leu839Arg