Canonical Allele Identifier: CA352719613

Gene: LAMB2

Linked Data

• MyVariant Identifiers: chr3:g.49162812T>A (hg19) ; chr3:g.49125379T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125379T>A , CM000665.2:g.49125379T>A	GRCh38
NC_000003.11:g.49162812T>A , CM000665.1:g.49162812T>A	GRCh37
NC_000003.10:g.49137816T>A	NCBI36
NG_008094.1:g.12788A>T
NG_054716.1:g.560A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2594A>T MANE Select	ENSP00000307156.4:p.Gln865Leu
ENST00000305544.8:c.2594A>T	ENSP00000307156.4:p.Gln865Leu
ENST00000418109.5:c.2594A>T	ENSP00000388325.1:p.Gln865Leu
ENST00000462930.5:n.1A>T
ENST00000464891.5:n.343A>T
ENST00000477701.1:n.467A>T
ENST00000483057.1:n.194A>T
ENST00000486298.5:n.426-210A>T
NM_002292.3:c.2594A>T	NP_002283.3:p.Gln865Leu
XM_005265127.3:c.2594A>T	XP_005265184.1:p.Gln865Leu
XM_005265127.4:c.2594A>T	XP_005265184.1:p.Gln865Leu
NM_002292.4:c.2594A>T MANE Select	NP_002283.3:p.Gln865Leu