Canonical Allele Identifier: CA433634031
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs2045356284
MyVariant Identifiers: chr3:g.49160216A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122783A>G , CM000665.2:g.49122783A>G GRCh38
NC_000003.11:g.49160216A>G , CM000665.1:g.49160216A>G GRCh37
NC_000003.10:g.49135220A>G NCBI36
NG_008094.1:g.15384T>C
NG_054716.1:g.3156T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4494T>C MANE Select ENSP00000307156.4:p.Ala1498=
ENST00000305544.8:c.4494T>C ENSP00000307156.4:p.Ala1498=
ENST00000418109.5:c.4494T>C ENSP00000388325.1:p.Ala1498=
ENST00000469665.1:n.803T>C
NM_002292.3:c.4494T>C NP_002283.3:p.Ala1498=
XM_005265127.3:c.4494T>C XP_005265184.1:p.Ala1498=
XM_005265127.4:c.4494T>C XP_005265184.1:p.Ala1498=
NM_002292.4:c.4494T>C MANE Select NP_002283.3:p.Ala1498=