Canonical Allele Identifier: CA3395105
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1487539
ClinVar RCV Id: RCV002006534
dbSNP Id: rs755489065
ExAC: 5:127670946 C / T
gnomAD v2: 5-127670946-C-T
gnomAD v3: 5-128335254-C-T
gnomAD v4: 5-128335254-C-T
COSMIC: COSM6287823 COSM6287824
MyVariant Identifiers: chr5:g.127670946C>T (hg19) chr5:g.128335254C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335254C>T , CM000667.2:g.128335254C>T GRCh38
NC_000005.9:g.127670946C>T , CM000667.1:g.127670946C>T GRCh37
NC_000005.8:g.127698845C>T NCBI36
NG_008750.1:g.207790G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.673G>A
ENST00000703785.1:n.754G>A
ENST00000262464.9:c.3889G>A MANE Select ENSP00000262464.4:p.Gly1297Ser
ENST00000262464.8:c.3889G>A ENSP00000262464.4:p.Gly1297Ser
ENST00000507835.5:c.439G>A ENSP00000426839.1:p.Gly147Ser
ENST00000508053.5:c.3889G>A ENSP00000424571.1:p.Gly1297Ser
ENST00000508989.5:c.3790G>A ENSP00000425596.1:p.Gly1264Ser
ENST00000619499.4:c.3886G>A ENSP00000482132.1:p.Gly1296Ser
NM_001999.3:c.3889G>A NP_001990.2:p.Gly1297Ser
XM_017009228.2:c.3736G>A XP_016864717.1:p.Gly1246Ser
NM_001999.4:c.3889G>A MANE Select NP_001990.2:p.Gly1297Ser
Search 100 bp 5'
Search 100 bp 3'