Canonical Allele Identifier: CA3393779
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 383156
ClinVar RCV Id: RCV001703780 RCV002446688
dbSNP Id: rs137914321
ExAC: 5:127595291 G / A
gnomAD v2: 5-127595291-G-A
gnomAD v3: 5-128259599-G-A
gnomAD v4: 5-128259599-G-A
MyVariant Identifiers: chr5:g.127595291G>A (hg19) chr5:g.128259599G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128259599G>A , CM000667.2:g.128259599G>A GRCh38
NC_000005.9:g.127595291G>A , CM000667.1:g.127595291G>A GRCh37
NC_000005.8:g.127623190G>A NCBI36
NG_008750.1:g.283445C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262464.9:c.8595C>T MANE Select ENSP00000262464.4:p.Pro2865=
ENST00000262464.8:c.8595C>T ENSP00000262464.4:p.Pro2865=
ENST00000508053.5:c.8595C>T ENSP00000424571.1:p.Pro2865=
ENST00000619499.4:c.8592C>T ENSP00000482132.1:p.Pro2864=
NM_001999.3:c.8595C>T NP_001990.2:p.Pro2865=
XM_017009228.2:c.8442C>T XP_016864717.1:p.Pro2814=
NM_001999.4:c.8595C>T MANE Select NP_001990.2:p.Pro2865=
Search 100 bp 5'
Search 100 bp 3'