Canonical Allele Identifier: CA352744669

Gene: LAMB2

Linked Data

• MyVariant Identifiers: chr3:g.49168200C>T (hg19) ; chr3:g.49130767C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49130767C>T , CM000665.2:g.49130767C>T	GRCh38
NC_000003.11:g.49168200C>T , CM000665.1:g.49168200C>T	GRCh37
NC_000003.10:g.49143204C>T	NCBI36
NG_008094.1:g.7400G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.1009G>A MANE Select	ENSP00000307156.4:p.Glu337Lys
ENST00000305544.8:c.1009G>A	ENSP00000307156.4:p.Glu337Lys
ENST00000418109.5:c.1009G>A	ENSP00000388325.1:p.Glu337Lys
NM_002292.3:c.1009G>A	NP_002283.3:p.Glu337Lys
XM_005265127.3:c.1009G>A	XP_005265184.1:p.Glu337Lys
XM_005265127.4:c.1009G>A	XP_005265184.1:p.Glu337Lys
NM_002292.4:c.1009G>A MANE Select	NP_002283.3:p.Glu337Lys