Canonical Allele Identifier: CA352720914

Gene: LAMB2

Linked Data

• dbSNP Id: rs1239601887
• gnomAD v2: 3-49162906-T-C
• MyVariant Identifiers: chr3:g.49162906T>C (hg19) ; chr3:g.49125473T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125473T>C , CM000665.2:g.49125473T>C	GRCh38
NC_000003.11:g.49162906T>C , CM000665.1:g.49162906T>C	GRCh37
NC_000003.10:g.49137910T>C	NCBI36
NG_008094.1:g.12694A>G
NG_054716.1:g.466A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2500A>G MANE Select	ENSP00000307156.4:p.Ser834Gly
ENST00000305544.8:c.2500A>G	ENSP00000307156.4:p.Ser834Gly
ENST00000418109.5:c.2500A>G	ENSP00000388325.1:p.Ser834Gly
ENST00000464891.5:n.249A>G
ENST00000477701.1:n.373A>G
ENST00000483057.1:n.100A>G
ENST00000486298.5:n.426-304A>G
NM_002292.3:c.2500A>G	NP_002283.3:p.Ser834Gly
XM_005265127.3:c.2500A>G	XP_005265184.1:p.Ser834Gly
XM_005265127.4:c.2500A>G	XP_005265184.1:p.Ser834Gly
NM_002292.4:c.2500A>G MANE Select	NP_002283.3:p.Ser834Gly