Canonical Allele Identifier: CA127006920
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 668795
ClinVar RCV Id: RCV000827752 RCV001078599 RCV002279553
dbSNP Id: rs376700480
gnomAD v2: 5-127668594-G-T
gnomAD v3: 5-128332902-G-T
gnomAD v4: 5-128332902-G-T
MyVariant Identifiers: chr5:g.127668594G>T (hg19) chr5:g.128332902G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128332902G>T , CM000667.2:g.128332902G>T GRCh38
NC_000005.9:g.127668594G>T , CM000667.1:g.127668594G>T GRCh37
NC_000005.8:g.127696493G>T NCBI36
NG_008750.1:g.210142C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.1006+10C>A
ENST00000703785.1:n.1087+10C>A
ENST00000262464.9:c.4222+10C>A MANE Select ENSP00000262464.4:n.4222+10C>A
ENST00000262464.8:c.4222+10C>A ENSP00000262464.4:n.4222+10C>A
ENST00000507835.5:c.772+10C>A ENSP00000426839.1:n.772+10C>A
ENST00000508053.5:c.4222+10C>A ENSP00000424571.1:n.4222+10C>A
ENST00000508989.5:c.4123+10C>A ENSP00000425596.1:n.4123+10C>A
ENST00000619499.4:c.4219+10C>A ENSP00000482132.1:n.4219+10C>A
NM_001999.3:c.4222+10C>A NP_001990.2:n.4222+10C>A
XM_017009228.2:c.4069+10C>A XP_016864717.1:n.4069+10C>A
NM_001999.4:c.4222+10C>A MANE Select NP_001990.2:n.4222+10C>A
Search 100 bp 5'
Search 100 bp 3'