Canonical Allele Identifier: CA352716115

Gene: LAMB2

Linked Data

• gnomAD v4: 3-49125046-A-C
• MyVariant Identifiers: chr3:g.49162479A>C (hg19) ; chr3:g.49125046A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125046A>C , CM000665.2:g.49125046A>C	GRCh38
NC_000003.11:g.49162479A>C , CM000665.1:g.49162479A>C	GRCh37
NC_000003.10:g.49137483A>C	NCBI36
NG_008094.1:g.13121T>G
NG_054716.1:g.893T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2844T>G MANE Select	ENSP00000307156.4:p.Tyr948Ter
ENST00000305544.8:c.2844T>G	ENSP00000307156.4:p.Tyr948Ter
ENST00000418109.5:c.2844T>G	ENSP00000388325.1:p.Tyr948Ter
ENST00000462930.5:n.251T>G
ENST00000464891.5:n.577T>G
ENST00000483057.1:n.444T>G
ENST00000486298.5:n.549T>G
ENST00000542580.1:n.159T>G
NM_002292.3:c.2844T>G	NP_002283.3:p.Tyr948Ter
XM_005265127.3:c.2844T>G	XP_005265184.1:p.Tyr948Ter
XM_005265127.4:c.2844T>G	XP_005265184.1:p.Tyr948Ter
NM_002292.4:c.2844T>G MANE Select	NP_002283.3:p.Tyr948Ter