Canonical Allele Identifier: CA1581295400
Gene: FBN2 HGNC NCBI

Linked Data

dbSNP Id: rs1752612637
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128395106A>G , CM000667.2:g.128395106A>G GRCh38
NC_000005.9:g.127730799A>G , CM000667.1:g.127730799A>G GRCh37
NC_000005.8:g.127758698A>G NCBI36
NG_008750.1:g.147937T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000703787.1:n.938+16T>C
ENST00000262464.9:c.1231+16T>C MANE Select ENSP00000262464.4:n.1231+16T>C
ENST00000262464.8:c.1231+16T>C ENSP00000262464.4:n.1231+16T>C
ENST00000508053.5:c.1231+16T>C ENSP00000424571.1:n.1231+16T>C
ENST00000508989.5:c.1132+16T>C ENSP00000425596.1:n.1132+16T>C
ENST00000619499.4:c.1228+16T>C ENSP00000482132.1:n.1228+16T>C
NM_001999.3:c.1231+16T>C NP_001990.2:n.1231+16T>C
XM_017009228.2:c.1079-1738T>C XP_016864717.1:n.1079-1738T>C
NM_001999.4:c.1231+16T>C MANE Select NP_001990.2:n.1231+16T>C
Search 100 bp 5'
Search 100 bp 3'