Canonical Allele Identifier: CA352717418
Gene: LAMB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49162586G>C (hg19) chr3:g.49125153G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125153G>C , CM000665.2:g.49125153G>C GRCh38
NC_000003.11:g.49162586G>C , CM000665.1:g.49162586G>C GRCh37
NC_000003.10:g.49137590G>C NCBI36
NG_008094.1:g.13014C>G
NG_054716.1:g.786C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2737C>G MANE Select ENSP00000307156.4:p.His913Asp
ENST00000305544.8:c.2737C>G ENSP00000307156.4:p.His913Asp
ENST00000418109.5:c.2737C>G ENSP00000388325.1:p.His913Asp
ENST00000462930.5:n.144C>G
ENST00000464891.5:n.470C>G
ENST00000483057.1:n.337C>G
ENST00000486298.5:n.442C>G
ENST00000542580.1:n.52C>G
NM_002292.3:c.2737C>G NP_002283.3:p.His913Asp
XM_005265127.3:c.2737C>G XP_005265184.1:p.His913Asp
XM_005265127.4:c.2737C>G XP_005265184.1:p.His913Asp
NM_002292.4:c.2737C>G MANE Select NP_002283.3:p.His913Asp
Search 100 bp 5'
Search 100 bp 3'