Canonical Allele Identifier: CA352715570

Gene: LAMB2

Linked Data

• ClinVar Variation Id: 1716334
• ClinVar RCV Id: RCV002303412
• dbSNP Id: rs2045395707
• MyVariant Identifiers: chr3:g.49162444T>C (hg19) ; chr3:g.49125011T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125011T>C , CM000665.2:g.49125011T>C	GRCh38
NC_000003.11:g.49162444T>C , CM000665.1:g.49162444T>C	GRCh37
NC_000003.10:g.49137448T>C	NCBI36
NG_008094.1:g.13156A>G
NG_054716.1:g.928A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2879A>G MANE Select	ENSP00000307156.4:p.Tyr960Cys
ENST00000305544.8:c.2879A>G	ENSP00000307156.4:p.Tyr960Cys
ENST00000418109.5:c.2879A>G	ENSP00000388325.1:p.Tyr960Cys
ENST00000462930.5:n.286A>G
ENST00000464891.5:n.612A>G
ENST00000483057.1:n.479A>G
ENST00000486298.5:n.584A>G
ENST00000542580.1:n.194A>G
NM_002292.3:c.2879A>G	NP_002283.3:p.Tyr960Cys
XM_005265127.3:c.2879A>G	XP_005265184.1:p.Tyr960Cys
XM_005265127.4:c.2879A>G	XP_005265184.1:p.Tyr960Cys
NM_002292.4:c.2879A>G MANE Select	NP_002283.3:p.Tyr960Cys