Canonical Allele Identifier: CA433636264
Gene: LAMB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49168282A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49130849A>T , CM000665.2:g.49130849A>T GRCh38
NC_000003.11:g.49168282A>T , CM000665.1:g.49168282A>T GRCh37
NC_000003.10:g.49143286A>T NCBI36
NG_008094.1:g.7318T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.927T>A MANE Select ENSP00000307156.4:p.Ala309=
ENST00000305544.8:c.927T>A ENSP00000307156.4:p.Ala309=
ENST00000418109.5:c.927T>A ENSP00000388325.1:p.Ala309=
NM_002292.3:c.927T>A NP_002283.3:p.Ala309=
XM_005265127.3:c.927T>A XP_005265184.1:p.Ala309=
XM_005265127.4:c.927T>A XP_005265184.1:p.Ala309=
NM_002292.4:c.927T>A MANE Select NP_002283.3:p.Ala309=