Canonical Allele Identifier: CA543048597

Gene: LAMB2

Linked Data

• dbSNP Id: rs1476762807
• gnomAD v2: 3-49162387-T-C
• gnomAD v4: 3-49124954-T-C
• MyVariant Identifiers: chr3:g.49162387T>C (hg19) ; chr3:g.49124954T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49124954T>C , CM000665.2:g.49124954T>C	GRCh38
NC_000003.11:g.49162387T>C , CM000665.1:g.49162387T>C	GRCh37
NC_000003.10:g.49137391T>C	NCBI36
NG_008094.1:g.13213A>G
NG_054716.1:g.985A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2885-29A>G MANE Select	ENSP00000307156.4:n.2885-29A>G
ENST00000305544.8:c.2885-29A>G	ENSP00000307156.4:n.2885-29A>G
ENST00000418109.5:c.2885-29A>G	ENSP00000388325.1:n.2885-29A>G
ENST00000462930.5:n.292-29A>G
ENST00000464891.5:n.618-29A>G
ENST00000483057.1:n.485-29A>G
ENST00000542580.1:n.200-29A>G
NM_002292.3:c.2885-29A>G	NP_002283.3:n.2885-29A>G
XM_005265127.3:c.2885-29A>G	XP_005265184.1:n.2885-29A>G
XM_005265127.4:c.2885-29A>G	XP_005265184.1:n.2885-29A>G
NM_002292.4:c.2885-29A>G MANE Select	NP_002283.3:n.2885-29A>G