Canonical Allele Identifier: CA352696148

Gene: LAMB2

Linked Data

• dbSNP Id: rs2045370165
• gnomAD v4: 3-49123230-T-C
• MyVariant Identifiers: chr3:g.49160663T>C (hg19) ; chr3:g.49123230T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49123230T>C , CM000665.2:g.49123230T>C	GRCh38
NC_000003.11:g.49160663T>C , CM000665.1:g.49160663T>C	GRCh37
NC_000003.10:g.49135667T>C	NCBI36
NG_008094.1:g.14937A>G
NG_054716.1:g.2709A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4126A>G MANE Select	ENSP00000307156.4:p.Lys1376Glu
ENST00000305544.8:c.4126A>G	ENSP00000307156.4:p.Lys1376Glu
ENST00000418109.5:c.4126A>G	ENSP00000388325.1:p.Lys1376Glu
ENST00000469665.1:n.356A>G
NM_002292.3:c.4126A>G	NP_002283.3:p.Lys1376Glu
XM_005265127.3:c.4126A>G	XP_005265184.1:p.Lys1376Glu
XM_005265127.4:c.4126A>G	XP_005265184.1:p.Lys1376Glu
NM_002292.4:c.4126A>G MANE Select	NP_002283.3:p.Lys1376Glu