Canonical Allele Identifier: CA543048645

Gene: LAMB2

Linked Data

• dbSNP Id: rs1244396715
• gnomAD v2: 3-49162940-C-T
• gnomAD v4: 3-49125507-C-T
• MyVariant Identifiers: chr3:g.49162940C>T (hg19) ; chr3:g.49125507C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125507C>T , CM000665.2:g.49125507C>T	GRCh38
NC_000003.11:g.49162940C>T , CM000665.1:g.49162940C>T	GRCh37
NC_000003.10:g.49137944C>T	NCBI36
NG_008094.1:g.12660G>A
NG_054716.1:g.432G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2489-23G>A MANE Select	ENSP00000307156.4:n.2489-23G>A
ENST00000305544.8:c.2489-23G>A	ENSP00000307156.4:n.2489-23G>A
ENST00000418109.5:c.2489-23G>A	ENSP00000388325.1:n.2489-23G>A
ENST00000464891.5:n.215G>A
ENST00000477701.1:n.362-23G>A
ENST00000483057.1:n.66G>A
ENST00000486298.5:n.426-338G>A
NM_002292.3:c.2489-23G>A	NP_002283.3:n.2489-23G>A
XM_005265127.3:c.2489-23G>A	XP_005265184.1:n.2489-23G>A
XM_005265127.4:c.2489-23G>A	XP_005265184.1:n.2489-23G>A
NM_002292.4:c.2489-23G>A MANE Select	NP_002283.3:n.2489-23G>A