Canonical Allele Identifier: CA1581269550
Gene: FBN2 HGNC NCBI

Linked Data

dbSNP Id: rs1581224180
gnomAD v4: 5-128335356-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335356T>G , CM000667.2:g.128335356T>G GRCh38
NC_000005.9:g.127671048T>G , CM000667.1:g.127671048T>G GRCh37
NC_000005.8:g.127698947T>G NCBI36
NG_008750.1:g.207688A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.632-61A>C
ENST00000703785.1:n.713-61A>C
ENST00000262464.9:c.3848-61A>C MANE Select ENSP00000262464.4:n.3848-61A>C
ENST00000262464.8:c.3848-61A>C ENSP00000262464.4:n.3848-61A>C
ENST00000507835.5:c.398-61A>C ENSP00000426839.1:n.398-61A>C
ENST00000508053.5:c.3848-61A>C ENSP00000424571.1:n.3848-61A>C
ENST00000508989.5:c.3749-61A>C ENSP00000425596.1:n.3749-61A>C
ENST00000619499.4:c.3845-61A>C ENSP00000482132.1:n.3845-61A>C
NM_001999.3:c.3848-61A>C NP_001990.2:n.3848-61A>C
XM_017009228.2:c.3695-61A>C XP_016864717.1:n.3695-61A>C
NM_001999.4:c.3848-61A>C MANE Select NP_001990.2:n.3848-61A>C
Search 100 bp 5'
Search 100 bp 3'