Canonical Allele Identifier: CA2394243

Gene: LAMB2

Linked Data

• dbSNP Id: rs781530275
• ExAC: 3:49162704 C / T
• gnomAD v2: 3-49162704-C-T
• gnomAD v4: 3-49125271-C-T
• MyVariant Identifiers: chr3:g.49162704C>T (hg19) ; chr3:g.49162704_49162706delinsTCT (hg19) ; chr3:g.49125271C>T (hg38) ; chr3:g.49125271_49125273delinsTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125271C>T , CM000665.2:g.49125271C>T	GRCh38
NC_000003.11:g.49162704C>T , CM000665.1:g.49162704C>T	GRCh37
NC_000003.10:g.49137708C>T	NCBI36
NG_008094.1:g.12896G>A
NG_054716.1:g.668G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2702G>A MANE Select	ENSP00000307156.4:p.Gly901Glu
ENST00000305544.8:c.2702G>A	ENSP00000307156.4:p.Gly901Glu
ENST00000418109.5:c.2702G>A	ENSP00000388325.1:p.Gly901Glu
ENST00000462930.5:n.109G>A
ENST00000464891.5:n.451G>A
ENST00000483057.1:n.302G>A
ENST00000486298.5:n.426-102G>A
NM_002292.3:c.2702G>A	NP_002283.3:p.Gly901Glu
XM_005265127.3:c.2702G>A	XP_005265184.1:p.Gly901Glu
XM_005265127.4:c.2702G>A	XP_005265184.1:p.Gly901Glu
NM_002292.4:c.2702G>A MANE Select	NP_002283.3:p.Gly901Glu