Canonical Allele Identifier: CA352720379

Gene: LAMB2

Linked Data

• MyVariant Identifiers: chr3:g.49162864C>A (hg19) ; chr3:g.49125431C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125431C>A , CM000665.2:g.49125431C>A	GRCh38
NC_000003.11:g.49162864C>A , CM000665.1:g.49162864C>A	GRCh37
NC_000003.10:g.49137868C>A	NCBI36
NG_008094.1:g.12736G>T
NG_054716.1:g.508G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2542G>T MANE Select	ENSP00000307156.4:p.Gly848Trp
ENST00000305544.8:c.2542G>T	ENSP00000307156.4:p.Gly848Trp
ENST00000418109.5:c.2542G>T	ENSP00000388325.1:p.Gly848Trp
ENST00000464891.5:n.291G>T
ENST00000477701.1:n.415G>T
ENST00000483057.1:n.142G>T
ENST00000486298.5:n.426-262G>T
NM_002292.3:c.2542G>T	NP_002283.3:p.Gly848Trp
XM_005265127.3:c.2542G>T	XP_005265184.1:p.Gly848Trp
XM_005265127.4:c.2542G>T	XP_005265184.1:p.Gly848Trp
NM_002292.4:c.2542G>T MANE Select	NP_002283.3:p.Gly848Trp