Canonical Allele Identifier: CA352692151

Gene: LAMB2

Linked Data

• ClinVar Variation Id: 3117602
• ClinVar RCV Id: RCV004409913
• gnomAD v4: 3-49122772-C-T
• MyVariant Identifiers: chr3:g.49160205C>T (hg19) ; chr3:g.49122772C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49122772C>T , CM000665.2:g.49122772C>T	GRCh38
NC_000003.11:g.49160205C>T , CM000665.1:g.49160205C>T	GRCh37
NC_000003.10:g.49135209C>T	NCBI36
NG_008094.1:g.15395G>A
NG_054716.1:g.3167G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4505G>A MANE Select	ENSP00000307156.4:p.Arg1502Lys
ENST00000305544.8:c.4505G>A	ENSP00000307156.4:p.Arg1502Lys
ENST00000418109.5:c.4505G>A	ENSP00000388325.1:p.Arg1502Lys
ENST00000469665.1:n.814G>A
NM_002292.3:c.4505G>A	NP_002283.3:p.Arg1502Lys
XM_005265127.3:c.4505G>A	XP_005265184.1:p.Arg1502Lys
XM_005265127.4:c.4505G>A	XP_005265184.1:p.Arg1502Lys
NM_002292.4:c.4505G>A MANE Select	NP_002283.3:p.Arg1502Lys