Canonical Allele Identifier: CA352714589

Gene: LAMB2

Linked Data

• MyVariant Identifiers: chr3:g.49162287A>G (hg19) ; chr3:g.49124854A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49124854A>G , CM000665.2:g.49124854A>G	GRCh38
NC_000003.11:g.49162287A>G , CM000665.1:g.49162287A>G	GRCh37
NC_000003.10:g.49137291A>G	NCBI36
NG_008094.1:g.13313T>C
NG_054716.1:g.1085T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2956T>C MANE Select	ENSP00000307156.4:p.Cys986Arg
ENST00000305544.8:c.2956T>C	ENSP00000307156.4:p.Cys986Arg
ENST00000418109.5:c.2956T>C	ENSP00000388325.1:p.Cys986Arg
ENST00000462930.5:n.363T>C
ENST00000464891.5:n.689T>C
ENST00000483057.1:n.556T>C
ENST00000542580.1:n.271T>C
NM_002292.3:c.2956T>C	NP_002283.3:p.Cys986Arg
XM_005265127.3:c.2956T>C	XP_005265184.1:p.Cys986Arg
XM_005265127.4:c.2956T>C	XP_005265184.1:p.Cys986Arg
NM_002292.4:c.2956T>C MANE Select	NP_002283.3:p.Cys986Arg