Canonical Allele Identifier: CA352697207

Gene: LAMB2

Linked Data

• dbSNP Id: rs1411162965
• gnomAD v2: 3-49160753-G-A
• gnomAD v4: 3-49123320-G-A
• MyVariant Identifiers: chr3:g.49160753G>A (hg19) ; chr3:g.49123320G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49123320G>A , CM000665.2:g.49123320G>A	GRCh38
NC_000003.11:g.49160753G>A , CM000665.1:g.49160753G>A	GRCh37
NC_000003.10:g.49135757G>A	NCBI36
NG_008094.1:g.14847C>T
NG_054716.1:g.2619C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4036C>T MANE Select	ENSP00000307156.4:p.Arg1346Cys
ENST00000305544.8:c.4036C>T	ENSP00000307156.4:p.Arg1346Cys
ENST00000418109.5:c.4036C>T	ENSP00000388325.1:p.Arg1346Cys
ENST00000469665.1:n.266C>T
NM_002292.3:c.4036C>T	NP_002283.3:p.Arg1346Cys
XM_005265127.3:c.4036C>T	XP_005265184.1:p.Arg1346Cys
XM_005265127.4:c.4036C>T	XP_005265184.1:p.Arg1346Cys
NM_002292.4:c.4036C>T MANE Select	NP_002283.3:p.Arg1346Cys