Canonical Allele Identifier: CA352717431

Gene: LAMB2

Linked Data

• MyVariant Identifiers: chr3:g.49162588A>T (hg19) ; chr3:g.49125155A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125155A>T , CM000665.2:g.49125155A>T	GRCh38
NC_000003.11:g.49162588A>T , CM000665.1:g.49162588A>T	GRCh37
NC_000003.10:g.49137592A>T	NCBI36
NG_008094.1:g.13012T>A
NG_054716.1:g.784T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2735T>A MANE Select	ENSP00000307156.4:p.Phe912Tyr
ENST00000305544.8:c.2735T>A	ENSP00000307156.4:p.Phe912Tyr
ENST00000418109.5:c.2735T>A	ENSP00000388325.1:p.Phe912Tyr
ENST00000462930.5:n.142T>A
ENST00000464891.5:n.468T>A
ENST00000483057.1:n.335T>A
ENST00000486298.5:n.440T>A
ENST00000542580.1:n.50T>A
NM_002292.3:c.2735T>A	NP_002283.3:p.Phe912Tyr
XM_005265127.3:c.2735T>A	XP_005265184.1:p.Phe912Tyr
XM_005265127.4:c.2735T>A	XP_005265184.1:p.Phe912Tyr
NM_002292.4:c.2735T>A MANE Select	NP_002283.3:p.Phe912Tyr