Canonical Allele Identifier: CA360759499
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128338096G>A , CM000667.2:g.128338096G>A GRCh38
NC_000005.9:g.127673788G>A , CM000667.1:g.127673788G>A GRCh37
NC_000005.8:g.127701687G>A NCBI36
NG_008750.1:g.204948C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.283C>T
ENST00000703785.1:n.364C>T
ENST00000262464.9:c.3499C>T MANE Select ENSP00000262464.4:p.Leu1167Phe
ENST00000262464.8:c.3499C>T ENSP00000262464.4:p.Leu1167Phe
ENST00000507835.5:c.49C>T ENSP00000426839.1:p.Leu17Phe
ENST00000508053.5:c.3499C>T ENSP00000424571.1:p.Leu1167Phe
ENST00000508989.5:c.3400C>T ENSP00000425596.1:p.Leu1134Phe
ENST00000619499.4:c.3496C>T ENSP00000482132.1:p.Leu1166Phe
NM_001999.3:c.3499C>T NP_001990.2:p.Leu1167Phe
XM_017009228.2:c.3346C>T XP_016864717.1:p.Leu1116Phe
NM_001999.4:c.3499C>T MANE Select NP_001990.2:p.Leu1167Phe