Canonical Allele Identifier: CA433636213
Gene: LAMB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49168176T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49130743T>G , CM000665.2:g.49130743T>G GRCh38
NC_000003.11:g.49168176T>G , CM000665.1:g.49168176T>G GRCh37
NC_000003.10:g.49143180T>G NCBI36
NG_008094.1:g.7424A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000305544.9:c.1033A>C MANE Select ENSP00000307156.4:p.Arg345=
ENST00000305544.8:c.1033A>C ENSP00000307156.4:p.Arg345=
ENST00000418109.5:c.1033A>C ENSP00000388325.1:p.Arg345=
NM_002292.3:c.1033A>C NP_002283.3:p.Arg345=
XM_005265127.3:c.1033A>C XP_005265184.1:p.Arg345=
XM_005265127.4:c.1033A>C XP_005265184.1:p.Arg345=
NM_002292.4:c.1033A>C MANE Select NP_002283.3:p.Arg345=