Canonical Allele Identifier: CA433634080
Gene: LAMB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49160246C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122813C>T , CM000665.2:g.49122813C>T GRCh38
NC_000003.11:g.49160246C>T , CM000665.1:g.49160246C>T GRCh37
NC_000003.10:g.49135250C>T NCBI36
NG_008094.1:g.15354G>A
NG_054716.1:g.3126G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4464G>A MANE Select ENSP00000307156.4:p.Gln1488=
ENST00000305544.8:c.4464G>A ENSP00000307156.4:p.Gln1488=
ENST00000418109.5:c.4464G>A ENSP00000388325.1:p.Gln1488=
ENST00000469665.1:n.773G>A
NM_002292.3:c.4464G>A NP_002283.3:p.Gln1488=
XM_005265127.3:c.4464G>A XP_005265184.1:p.Gln1488=
XM_005265127.4:c.4464G>A XP_005265184.1:p.Gln1488=
NM_002292.4:c.4464G>A MANE Select NP_002283.3:p.Gln1488=