Canonical Allele Identifier: CA352697184

Gene: LAMB2

Linked Data

• dbSNP Id: rs149144377
• gnomAD v4: 3-49123319-C-G
• MyVariant Identifiers: chr3:g.49160752C>G (hg19) ; chr3:g.49123319C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49123319C>G , CM000665.2:g.49123319C>G	GRCh38
NC_000003.11:g.49160752C>G , CM000665.1:g.49160752C>G	GRCh37
NC_000003.10:g.49135756C>G	NCBI36
NG_008094.1:g.14848G>C
NG_054716.1:g.2620G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4037G>C MANE Select	ENSP00000307156.4:p.Arg1346Pro
ENST00000305544.8:c.4037G>C	ENSP00000307156.4:p.Arg1346Pro
ENST00000418109.5:c.4037G>C	ENSP00000388325.1:p.Arg1346Pro
ENST00000469665.1:n.267G>C
NM_002292.3:c.4037G>C	NP_002283.3:p.Arg1346Pro
XM_005265127.3:c.4037G>C	XP_005265184.1:p.Arg1346Pro
XM_005265127.4:c.4037G>C	XP_005265184.1:p.Arg1346Pro
NM_002292.4:c.4037G>C MANE Select	NP_002283.3:p.Arg1346Pro