Canonical Allele Identifier: CA352692096

Gene: LAMB2

Linked Data

• MyVariant Identifiers: chr3:g.49160200G>T (hg19) ; chr3:g.49122767G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49122767G>T , CM000665.2:g.49122767G>T	GRCh38
NC_000003.11:g.49160200G>T , CM000665.1:g.49160200G>T	GRCh37
NC_000003.10:g.49135204G>T	NCBI36
NG_008094.1:g.15400C>A
NG_054716.1:g.3172C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4510C>A MANE Select	ENSP00000307156.4:p.Gln1504Lys
ENST00000305544.8:c.4510C>A	ENSP00000307156.4:p.Gln1504Lys
ENST00000418109.5:c.4510C>A	ENSP00000388325.1:p.Gln1504Lys
ENST00000469665.1:n.819C>A
NM_002292.3:c.4510C>A	NP_002283.3:p.Gln1504Lys
XM_005265127.3:c.4510C>A	XP_005265184.1:p.Gln1504Lys
XM_005265127.4:c.4510C>A	XP_005265184.1:p.Gln1504Lys
NM_002292.4:c.4510C>A MANE Select	NP_002283.3:p.Gln1504Lys