Canonical Allele Identifier: CA2394220

Gene: LAMB2

Linked Data

• dbSNP Id: rs758495729
• ExAC: 3:49162586 G / A
• gnomAD v2: 3-49162586-G-A
• gnomAD v4: 3-49125153-G-A
• MyVariant Identifiers: chr3:g.49162586G>A (hg19) ; chr3:g.49125153G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125153G>A , CM000665.2:g.49125153G>A	GRCh38
NC_000003.11:g.49162586G>A , CM000665.1:g.49162586G>A	GRCh37
NC_000003.10:g.49137590G>A	NCBI36
NG_008094.1:g.13014C>T
NG_054716.1:g.786C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2737C>T MANE Select	ENSP00000307156.4:p.His913Tyr
ENST00000305544.8:c.2737C>T	ENSP00000307156.4:p.His913Tyr
ENST00000418109.5:c.2737C>T	ENSP00000388325.1:p.His913Tyr
ENST00000462930.5:n.144C>T
ENST00000464891.5:n.470C>T
ENST00000483057.1:n.337C>T
ENST00000486298.5:n.442C>T
ENST00000542580.1:n.52C>T
NM_002292.3:c.2737C>T	NP_002283.3:p.His913Tyr
XM_005265127.3:c.2737C>T	XP_005265184.1:p.His913Tyr
XM_005265127.4:c.2737C>T	XP_005265184.1:p.His913Tyr
NM_002292.4:c.2737C>T MANE Select	NP_002283.3:p.His913Tyr