Canonical Allele Identifier: CA433834354

Gene: LAMB2

Linked Data

• dbSNP Id: rs1252885102
• gnomAD v2: 3-49162590-A-G
• gnomAD v4: 3-49125157-A-G
• MyVariant Identifiers: chr3:g.49162590A>G (hg19) ; chr3:g.49125157A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125157A>G , CM000665.2:g.49125157A>G	GRCh38
NC_000003.11:g.49162590A>G , CM000665.1:g.49162590A>G	GRCh37
NC_000003.10:g.49137594A>G	NCBI36
NG_008094.1:g.13010T>C
NG_054716.1:g.782T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000305544.9:c.2733T>C MANE Select	ENSP00000307156.4:p.Gly911=
ENST00000305544.8:c.2733T>C	ENSP00000307156.4:p.Gly911=
ENST00000418109.5:c.2733T>C	ENSP00000388325.1:p.Gly911=
ENST00000462930.5:n.140T>C
ENST00000464891.5:n.466T>C
ENST00000483057.1:n.333T>C
ENST00000486298.5:n.438T>C
ENST00000542580.1:n.48T>C
NM_002292.3:c.2733T>C	NP_002283.3:p.Gly911=
XM_005265127.3:c.2733T>C	XP_005265184.1:p.Gly911=
XM_005265127.4:c.2733T>C	XP_005265184.1:p.Gly911=
NM_002292.4:c.2733T>C MANE Select	NP_002283.3:p.Gly911=