Canonical Allele Identifier: CA803636896
Gene: FBN2 HGNC NCBI

Linked Data

dbSNP Id: rs1223858530
gnomAD v3: 5-128335396-C-T
gnomAD v4: 5-128335396-C-T
MyVariant Identifiers: chr5:g.127671088C>T (hg19) chr5:g.128335396C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335396C>T , CM000667.2:g.128335396C>T GRCh38
NC_000005.9:g.127671088C>T , CM000667.1:g.127671088C>T GRCh37
NC_000005.8:g.127698987C>T NCBI36
NG_008750.1:g.207648G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.631+59G>A
ENST00000703785.1:n.712+59G>A
ENST00000262464.9:c.3847+59G>A MANE Select ENSP00000262464.4:n.3847+59G>A
ENST00000262464.8:c.3847+59G>A ENSP00000262464.4:n.3847+59G>A
ENST00000507835.5:c.397+59G>A ENSP00000426839.1:n.397+59G>A
ENST00000508053.5:c.3847+59G>A ENSP00000424571.1:n.3847+59G>A
ENST00000508989.5:c.3748+59G>A ENSP00000425596.1:n.3748+59G>A
ENST00000619499.4:c.3844+59G>A ENSP00000482132.1:n.3844+59G>A
NM_001999.3:c.3847+59G>A NP_001990.2:n.3847+59G>A
XM_017009228.2:c.3694+59G>A XP_016864717.1:n.3694+59G>A
NM_001999.4:c.3847+59G>A MANE Select NP_001990.2:n.3847+59G>A
Search 100 bp 5'
Search 100 bp 3'