Canonical Allele Identifier: CA352716782

Gene: LAMB2

Linked Data

• gnomAD v4: 3-49125101-G-A
• MyVariant Identifiers: chr3:g.49162534G>A (hg19) ; chr3:g.49125101G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125101G>A , CM000665.2:g.49125101G>A	GRCh38
NC_000003.11:g.49162534G>A , CM000665.1:g.49162534G>A	GRCh37
NC_000003.10:g.49137538G>A	NCBI36
NG_008094.1:g.13066C>T
NG_054716.1:g.838C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2789C>T MANE Select	ENSP00000307156.4:p.Pro930Leu
ENST00000305544.8:c.2789C>T	ENSP00000307156.4:p.Pro930Leu
ENST00000418109.5:c.2789C>T	ENSP00000388325.1:p.Pro930Leu
ENST00000462930.5:n.196C>T
ENST00000464891.5:n.522C>T
ENST00000483057.1:n.389C>T
ENST00000486298.5:n.494C>T
ENST00000542580.1:n.104C>T
NM_002292.3:c.2789C>T	NP_002283.3:p.Pro930Leu
XM_005265127.3:c.2789C>T	XP_005265184.1:p.Pro930Leu
XM_005265127.4:c.2789C>T	XP_005265184.1:p.Pro930Leu
NM_002292.4:c.2789C>T MANE Select	NP_002283.3:p.Pro930Leu