Canonical Allele Identifier: CA433834472
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs1487319796
MyVariant Identifiers: chr3:g.49162868G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125435G>A , CM000665.2:g.49125435G>A GRCh38
NC_000003.11:g.49162868G>A , CM000665.1:g.49162868G>A GRCh37
NC_000003.10:g.49137872G>A NCBI36
NG_008094.1:g.12732C>T
NG_054716.1:g.504C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2538C>T MANE Select ENSP00000307156.4:p.Thr846=
ENST00000305544.8:c.2538C>T ENSP00000307156.4:p.Thr846=
ENST00000418109.5:c.2538C>T ENSP00000388325.1:p.Thr846=
ENST00000464891.5:n.287C>T
ENST00000477701.1:n.411C>T
ENST00000483057.1:n.138C>T
ENST00000486298.5:n.426-266C>T
NM_002292.3:c.2538C>T NP_002283.3:p.Thr846=
XM_005265127.3:c.2538C>T XP_005265184.1:p.Thr846=
XM_005265127.4:c.2538C>T XP_005265184.1:p.Thr846=
NM_002292.4:c.2538C>T MANE Select NP_002283.3:p.Thr846=