Canonical Allele Identifier: CA352694029
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs1386423708
gnomAD v2: 3-49160371-C-T
gnomAD v4: 3-49122938-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122938C>T , CM000665.2:g.49122938C>T GRCh38
NC_000003.11:g.49160371C>T , CM000665.1:g.49160371C>T GRCh37
NC_000003.10:g.49135375C>T NCBI36
NG_008094.1:g.15229G>A
NG_054716.1:g.3001G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4339G>A MANE Select ENSP00000307156.4:p.Ala1447Thr
ENST00000305544.8:c.4339G>A ENSP00000307156.4:p.Ala1447Thr
ENST00000418109.5:c.4339G>A ENSP00000388325.1:p.Ala1447Thr
ENST00000469665.1:n.648G>A
NM_002292.3:c.4339G>A NP_002283.3:p.Ala1447Thr
XM_005265127.3:c.4339G>A XP_005265184.1:p.Ala1447Thr
XM_005265127.4:c.4339G>A XP_005265184.1:p.Ala1447Thr
NM_002292.4:c.4339G>A MANE Select NP_002283.3:p.Ala1447Thr