Canonical Allele Identifier: CA1363339192

Gene: LAMB2

Linked Data

• dbSNP Id: rs2045394737
• gnomAD v3: 3-49124937-T-G
• gnomAD v4: 3-49124937-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49124937T>G , CM000665.2:g.49124937T>G	GRCh38
NC_000003.11:g.49162370T>G , CM000665.1:g.49162370T>G	GRCh37
NC_000003.10:g.49137374T>G	NCBI36
NG_008094.1:g.13230A>C
NG_054716.1:g.1002A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2885-12A>C MANE Select	ENSP00000307156.4:n.2885-12A>C
ENST00000305544.8:c.2885-12A>C	ENSP00000307156.4:n.2885-12A>C
ENST00000418109.5:c.2885-12A>C	ENSP00000388325.1:n.2885-12A>C
ENST00000462930.5:n.292-12A>C
ENST00000464891.5:n.618-12A>C
ENST00000483057.1:n.485-12A>C
ENST00000542580.1:n.200-12A>C
NM_002292.3:c.2885-12A>C	NP_002283.3:n.2885-12A>C
XM_005265127.3:c.2885-12A>C	XP_005265184.1:n.2885-12A>C
XM_005265127.4:c.2885-12A>C	XP_005265184.1:n.2885-12A>C
NM_002292.4:c.2885-12A>C MANE Select	NP_002283.3:n.2885-12A>C