Canonical Allele Identifier: CA352735218
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 447697
dbSNP Id: rs1330915067

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49129153C>A , CM000665.2:g.49129153C>A GRCh38
NC_000003.11:g.49166586C>A , CM000665.1:g.49166586C>A GRCh37
NC_000003.10:g.49141590C>A NCBI36
NG_008094.1:g.9014G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.1599-1G>T MANE Select ENSP00000307156.4:n.1599-1G>T
ENST00000305544.8:c.1599-1G>T ENSP00000307156.4:n.1599-1G>T
ENST00000418109.5:c.1599-1G>T ENSP00000388325.1:n.1599-1G>T
ENST00000483321.1:n.29-1G>T
NM_002292.3:c.1599-1G>T NP_002283.3:n.1599-1G>T
XM_005265127.3:c.1599-1G>T XP_005265184.1:n.1599-1G>T
XM_005265127.4:c.1599-1G>T XP_005265184.1:n.1599-1G>T
NM_002292.4:c.1599-1G>T MANE Select NP_002283.3:n.1599-1G>T