Canonical Allele Identifier: CA2394266

Gene: LAMB2

Linked Data

• dbSNP Id: rs748986423
• ExAC: 3:49162792 G / C
• gnomAD v2: 3-49162792-G-C
• gnomAD v4: 3-49125359-G-C
• MyVariant Identifiers: chr3:g.49162792G>C (hg19) ; chr3:g.49125359G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125359G>C , CM000665.2:g.49125359G>C	GRCh38
NC_000003.11:g.49162792G>C , CM000665.1:g.49162792G>C	GRCh37
NC_000003.10:g.49137796G>C	NCBI36
NG_008094.1:g.12808C>G
NG_054716.1:g.580C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2614C>G MANE Select	ENSP00000307156.4:p.Pro872Ala
ENST00000305544.8:c.2614C>G	ENSP00000307156.4:p.Pro872Ala
ENST00000418109.5:c.2614C>G	ENSP00000388325.1:p.Pro872Ala
ENST00000462930.5:n.21C>G
ENST00000464891.5:n.363C>G
ENST00000477701.1:n.487C>G
ENST00000483057.1:n.214C>G
ENST00000486298.5:n.426-190C>G
NM_002292.3:c.2614C>G	NP_002283.3:p.Pro872Ala
XM_005265127.3:c.2614C>G	XP_005265184.1:p.Pro872Ala
XM_005265127.4:c.2614C>G	XP_005265184.1:p.Pro872Ala
NM_002292.4:c.2614C>G MANE Select	NP_002283.3:p.Pro872Ala