Canonical Allele Identifier: CA352719753

Gene: LAMB2

Linked Data

• MyVariant Identifiers: chr3:g.49162821T>A (hg19) ; chr3:g.49125388T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125388T>A , CM000665.2:g.49125388T>A	GRCh38
NC_000003.11:g.49162821T>A , CM000665.1:g.49162821T>A	GRCh37
NC_000003.10:g.49137825T>A	NCBI36
NG_008094.1:g.12779A>T
NG_054716.1:g.551A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2585A>T MANE Select	ENSP00000307156.4:p.Asp862Val
ENST00000305544.8:c.2585A>T	ENSP00000307156.4:p.Asp862Val
ENST00000418109.5:c.2585A>T	ENSP00000388325.1:p.Asp862Val
ENST00000464891.5:n.334A>T
ENST00000477701.1:n.458A>T
ENST00000483057.1:n.185A>T
ENST00000486298.5:n.426-219A>T
NM_002292.3:c.2585A>T	NP_002283.3:p.Asp862Val
XM_005265127.3:c.2585A>T	XP_005265184.1:p.Asp862Val
XM_005265127.4:c.2585A>T	XP_005265184.1:p.Asp862Val
NM_002292.4:c.2585A>T MANE Select	NP_002283.3:p.Asp862Val