Canonical Allele Identifier: CA352696700
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs1195855498
gnomAD v2: 3-49160710-T-C
gnomAD v3: 3-49123277-T-C
gnomAD v4: 3-49123277-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49123277T>C , CM000665.2:g.49123277T>C GRCh38
NC_000003.11:g.49160710T>C , CM000665.1:g.49160710T>C GRCh37
NC_000003.10:g.49135714T>C NCBI36
NG_008094.1:g.14890A>G
NG_054716.1:g.2662A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4079A>G MANE Select ENSP00000307156.4:p.Asn1360Ser
ENST00000305544.8:c.4079A>G ENSP00000307156.4:p.Asn1360Ser
ENST00000418109.5:c.4079A>G ENSP00000388325.1:p.Asn1360Ser
ENST00000469665.1:n.309A>G
NM_002292.3:c.4079A>G NP_002283.3:p.Asn1360Ser
XM_005265127.3:c.4079A>G XP_005265184.1:p.Asn1360Ser
XM_005265127.4:c.4079A>G XP_005265184.1:p.Asn1360Ser
NM_002292.4:c.4079A>G MANE Select NP_002283.3:p.Asn1360Ser