Canonical Allele Identifier: CA2578395911
Gene: FBN2 HGNC NCBI

Linked Data

gnomAD v4: 5-128301308-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128301308G>T , CM000667.2:g.128301308G>T GRCh38
NC_000005.9:g.127637000G>T , CM000667.1:g.127637000G>T GRCh37
NC_000005.8:g.127664899G>T NCBI36
NG_008750.1:g.241736C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2830+74C>A
ENST00000703785.1:n.2749+74C>A
ENST00000262464.9:c.6046+74C>A MANE Select ENSP00000262464.4:n.6046+74C>A
ENST00000262464.8:c.6046+74C>A ENSP00000262464.4:n.6046+74C>A
ENST00000508053.5:c.6046+74C>A ENSP00000424571.1:n.6046+74C>A
ENST00000619499.4:c.6043+74C>A ENSP00000482132.1:n.6043+74C>A
NM_001999.3:c.6046+74C>A NP_001990.2:n.6046+74C>A
XM_017009228.2:c.5893+74C>A XP_016864717.1:n.5893+74C>A
NM_001999.4:c.6046+74C>A MANE Select NP_001990.2:n.6046+74C>A
Search 100 bp 5'
Search 100 bp 3'