Canonical Allele Identifier: CA433634253
Gene: LAMB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49160721G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49123288G>A , CM000665.2:g.49123288G>A GRCh38
NC_000003.11:g.49160721G>A , CM000665.1:g.49160721G>A GRCh37
NC_000003.10:g.49135725G>A NCBI36
NG_008094.1:g.14879C>T
NG_054716.1:g.2651C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4068C>T MANE Select ENSP00000307156.4:p.Ser1356=
ENST00000305544.8:c.4068C>T ENSP00000307156.4:p.Ser1356=
ENST00000418109.5:c.4068C>T ENSP00000388325.1:p.Ser1356=
ENST00000469665.1:n.298C>T
NM_002292.3:c.4068C>T NP_002283.3:p.Ser1356=
XM_005265127.3:c.4068C>T XP_005265184.1:p.Ser1356=
XM_005265127.4:c.4068C>T XP_005265184.1:p.Ser1356=
NM_002292.4:c.4068C>T MANE Select NP_002283.3:p.Ser1356=