Canonical Allele Identifier: CA2394175

Gene: LAMB2

Linked Data

• dbSNP Id: rs750117203
• ExAC: 3:49162397 A / T
• gnomAD v2: 3-49162397-A-T
• gnomAD v4: 3-49124964-A-T
• MyVariant Identifiers: chr3:g.49162397A>T (hg19) ; chr3:g.49124964A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49124964A>T , CM000665.2:g.49124964A>T	GRCh38
NC_000003.11:g.49162397A>T , CM000665.1:g.49162397A>T	GRCh37
NC_000003.10:g.49137401A>T	NCBI36
NG_008094.1:g.13203T>A
NG_054716.1:g.975T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2885-39T>A MANE Select	ENSP00000307156.4:n.2885-39T>A
ENST00000305544.8:c.2885-39T>A	ENSP00000307156.4:n.2885-39T>A
ENST00000418109.5:c.2885-39T>A	ENSP00000388325.1:n.2885-39T>A
ENST00000462930.5:n.292-39T>A
ENST00000464891.5:n.618-39T>A
ENST00000483057.1:n.485-39T>A
ENST00000542580.1:n.200-39T>A
NM_002292.3:c.2885-39T>A	NP_002283.3:n.2885-39T>A
XM_005265127.3:c.2885-39T>A	XP_005265184.1:n.2885-39T>A
XM_005265127.4:c.2885-39T>A	XP_005265184.1:n.2885-39T>A
NM_002292.4:c.2885-39T>A MANE Select	NP_002283.3:n.2885-39T>A