Canonical Allele Identifier: CA446306392
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127640734A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128305042A>G , CM000667.2:g.128305042A>G GRCh38
NC_000005.9:g.127640734A>G , CM000667.1:g.127640734A>G GRCh37
NC_000005.8:g.127668633A>G NCBI36
NG_008750.1:g.238002T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2499T>C
ENST00000703785.1:n.2418T>C
ENST00000262464.9:c.5715T>C MANE Select ENSP00000262464.4:p.His1905=
ENST00000262464.8:c.5715T>C ENSP00000262464.4:p.His1905=
ENST00000508053.5:c.5715T>C ENSP00000424571.1:p.His1905=
ENST00000619499.4:c.5712T>C ENSP00000482132.1:p.His1904=
NM_001999.3:c.5715T>C NP_001990.2:p.His1905=
XM_017009228.2:c.5562T>C XP_016864717.1:p.His1854=
NM_001999.4:c.5715T>C MANE Select NP_001990.2:p.His1905=