Canonical Allele Identifier: CA352694325
Gene: LAMB2 HGNC NCBI

Linked Data

gnomAD v4: 3-49122971-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122971G>T , CM000665.2:g.49122971G>T GRCh38
NC_000003.11:g.49160404G>T , CM000665.1:g.49160404G>T GRCh37
NC_000003.10:g.49135408G>T NCBI36
NG_008094.1:g.15196C>A
NG_054716.1:g.2968C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4306C>A MANE Select ENSP00000307156.4:p.Arg1436Ser
ENST00000305544.8:c.4306C>A ENSP00000307156.4:p.Arg1436Ser
ENST00000418109.5:c.4306C>A ENSP00000388325.1:p.Arg1436Ser
ENST00000469665.1:n.615C>A
NM_002292.3:c.4306C>A NP_002283.3:p.Arg1436Ser
XM_005265127.3:c.4306C>A XP_005265184.1:p.Arg1436Ser
XM_005265127.4:c.4306C>A XP_005265184.1:p.Arg1436Ser
NM_002292.4:c.4306C>A MANE Select NP_002283.3:p.Arg1436Ser