Canonical Allele Identifier: CA352717424

Gene: LAMB2

Linked Data

• MyVariant Identifiers: chr3:g.49162587G>C (hg19) ; chr3:g.49125154G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125154G>C , CM000665.2:g.49125154G>C	GRCh38
NC_000003.11:g.49162587G>C , CM000665.1:g.49162587G>C	GRCh37
NC_000003.10:g.49137591G>C	NCBI36
NG_008094.1:g.13013C>G
NG_054716.1:g.785C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2736C>G MANE Select	ENSP00000307156.4:p.Phe912Leu
ENST00000305544.8:c.2736C>G	ENSP00000307156.4:p.Phe912Leu
ENST00000418109.5:c.2736C>G	ENSP00000388325.1:p.Phe912Leu
ENST00000462930.5:n.143C>G
ENST00000464891.5:n.469C>G
ENST00000483057.1:n.336C>G
ENST00000486298.5:n.441C>G
ENST00000542580.1:n.51C>G
NM_002292.3:c.2736C>G	NP_002283.3:p.Phe912Leu
XM_005265127.3:c.2736C>G	XP_005265184.1:p.Phe912Leu
XM_005265127.4:c.2736C>G	XP_005265184.1:p.Phe912Leu
NM_002292.4:c.2736C>G MANE Select	NP_002283.3:p.Phe912Leu