Canonical Allele Identifier: CA2394499
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 258600
dbSNP Id: rs33942096
gnomAD v2: 3-49166220-G-A
gnomAD v3: 3-49128787-G-A
gnomAD v4: 3-49128787-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49128787G>A , CM000665.2:g.49128787G>A GRCh38
NC_000003.11:g.49166220G>A , CM000665.1:g.49166220G>A GRCh37
NC_000003.10:g.49141224G>A NCBI36
NG_008094.1:g.9380C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.1764C>T MANE Select ENSP00000307156.4:p.Pro588=
ENST00000305544.8:c.1764C>T ENSP00000307156.4:p.Pro588=
ENST00000418109.5:c.1764C>T ENSP00000388325.1:p.Pro588=
ENST00000483321.1:n.194C>T
NM_002292.3:c.1764C>T NP_002283.3:p.Pro588=
XM_005265127.3:c.1764C>T XP_005265184.1:p.Pro588=
XM_005265127.4:c.1764C>T XP_005265184.1:p.Pro588=
NM_002292.4:c.1764C>T MANE Select NP_002283.3:p.Pro588=