Canonical Allele Identifier: CA352693998
Gene: LAMB2 HGNC NCBI

Linked Data

gnomAD v4: 3-49122937-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122937G>A , CM000665.2:g.49122937G>A GRCh38
NC_000003.11:g.49160370G>A , CM000665.1:g.49160370G>A GRCh37
NC_000003.10:g.49135374G>A NCBI36
NG_008094.1:g.15230C>T
NG_054716.1:g.3002C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4340C>T MANE Select ENSP00000307156.4:p.Ala1447Val
ENST00000305544.8:c.4340C>T ENSP00000307156.4:p.Ala1447Val
ENST00000418109.5:c.4340C>T ENSP00000388325.1:p.Ala1447Val
ENST00000469665.1:n.649C>T
NM_002292.3:c.4340C>T NP_002283.3:p.Ala1447Val
XM_005265127.3:c.4340C>T XP_005265184.1:p.Ala1447Val
XM_005265127.4:c.4340C>T XP_005265184.1:p.Ala1447Val
NM_002292.4:c.4340C>T MANE Select NP_002283.3:p.Ala1447Val