Canonical Allele Identifier: CA433636234

Gene: LAMB2

Linked Data

• gnomAD v4: 3-49130783-C-A
• MyVariant Identifiers: chr3:g.49168216C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49130783C>A , CM000665.2:g.49130783C>A	GRCh38
NC_000003.11:g.49168216C>A , CM000665.1:g.49168216C>A	GRCh37
NC_000003.10:g.49143220C>A	NCBI36
NG_008094.1:g.7384G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.993G>T MANE Select	ENSP00000307156.4:p.Leu331=
ENST00000305544.8:c.993G>T	ENSP00000307156.4:p.Leu331=
ENST00000418109.5:c.993G>T	ENSP00000388325.1:p.Leu331=
NM_002292.3:c.993G>T	NP_002283.3:p.Leu331=
XM_005265127.3:c.993G>T	XP_005265184.1:p.Leu331=
XM_005265127.4:c.993G>T	XP_005265184.1:p.Leu331=
NM_002292.4:c.993G>T MANE Select	NP_002283.3:p.Leu331=