Canonical Allele Identifier: CA352715204

Gene: LAMB2

Linked Data

• dbSNP Id: rs774551290
• gnomAD v2: 3-49162352-C-A
• gnomAD v4: 3-49124919-C-A
• MyVariant Identifiers: chr3:g.49162352C>A (hg19) ; chr3:g.49124919C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49124919C>A , CM000665.2:g.49124919C>A	GRCh38
NC_000003.11:g.49162352C>A , CM000665.1:g.49162352C>A	GRCh37
NC_000003.10:g.49137356C>A	NCBI36
NG_008094.1:g.13248G>T
NG_054716.1:g.1020G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2891G>T MANE Select	ENSP00000307156.4:p.Arg964Leu
ENST00000305544.8:c.2891G>T	ENSP00000307156.4:p.Arg964Leu
ENST00000418109.5:c.2891G>T	ENSP00000388325.1:p.Arg964Leu
ENST00000462930.5:n.298G>T
ENST00000464891.5:n.624G>T
ENST00000483057.1:n.491G>T
ENST00000542580.1:n.206G>T
NM_002292.3:c.2891G>T	NP_002283.3:p.Arg964Leu
XM_005265127.3:c.2891G>T	XP_005265184.1:p.Arg964Leu
XM_005265127.4:c.2891G>T	XP_005265184.1:p.Arg964Leu
NM_002292.4:c.2891G>T MANE Select	NP_002283.3:p.Arg964Leu