Canonical Allele Identifier: CA360759504

Gene: FBN2

Linked Data

• gnomAD v4: 5-128338098-G-A
• MyVariant Identifiers: chr5:g.127673790G>A (hg19) ; chr5:g.128338098G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338098G>A , CM000667.2:g.128338098G>A	GRCh38
NC_000005.9:g.127673790G>A , CM000667.1:g.127673790G>A	GRCh37
NC_000005.8:g.127701689G>A	NCBI36
NG_008750.1:g.204946C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.281C>T
ENST00000703785.1:n.362C>T
ENST00000262464.9:c.3497C>T MANE Select	ENSP00000262464.4:p.Pro1166Leu
ENST00000262464.8:c.3497C>T	ENSP00000262464.4:p.Pro1166Leu
ENST00000507835.5:c.47C>T	ENSP00000426839.1:p.Pro16Leu
ENST00000508053.5:c.3497C>T	ENSP00000424571.1:p.Pro1166Leu
ENST00000508989.5:c.3398C>T	ENSP00000425596.1:p.Pro1133Leu
ENST00000619499.4:c.3494C>T	ENSP00000482132.1:p.Pro1165Leu
NM_001999.3:c.3497C>T	NP_001990.2:p.Pro1166Leu
XM_017009228.2:c.3344C>T	XP_016864717.1:p.Pro1115Leu
NM_001999.4:c.3497C>T MANE Select	NP_001990.2:p.Pro1166Leu