Canonical Allele Identifier: CA360767347
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127692999G>T (hg19) chr5:g.128357307G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128357307G>T , CM000667.2:g.128357307G>T GRCh38
NC_000005.9:g.127692999G>T , CM000667.1:g.127692999G>T GRCh37
NC_000005.8:g.127720898G>T NCBI36
NG_008750.1:g.185737C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.2643C>A MANE Select ENSP00000262464.4:p.Ser881Arg
ENST00000262464.8:c.2643C>A ENSP00000262464.4:p.Ser881Arg
ENST00000508053.5:c.2643C>A ENSP00000424571.1:p.Ser881Arg
ENST00000508989.5:c.2544C>A ENSP00000425596.1:p.Ser848Arg
ENST00000619499.4:c.2640C>A ENSP00000482132.1:p.Ser880Arg
NM_001999.3:c.2643C>A NP_001990.2:p.Ser881Arg
XM_017009228.2:c.2490C>A XP_016864717.1:p.Ser830Arg
NM_001999.4:c.2643C>A MANE Select NP_001990.2:p.Ser881Arg
Search 100 bp 5'
Search 100 bp 3'