Canonical Allele Identifier: CA360759931

Gene: FBN2

Linked Data

• gnomAD v4: 5-128338985-G-T
• MyVariant Identifiers: chr5:g.127674677G>T (hg19) ; chr5:g.128338985G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338985G>T , CM000667.2:g.128338985G>T	GRCh38
NC_000005.9:g.127674677G>T , CM000667.1:g.127674677G>T	GRCh37
NC_000005.8:g.127702576G>T	NCBI36
NG_008750.1:g.204059C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.204C>A
ENST00000703785.1:n.285C>A
ENST00000262464.9:c.3420C>A MANE Select	ENSP00000262464.4:p.Cys1140Ter
ENST00000262464.8:c.3420C>A	ENSP00000262464.4:p.Cys1140Ter
ENST00000507835.5:c.-31C>A	ENSP00000426839.1:n.-31C>A
ENST00000508053.5:c.3420C>A	ENSP00000424571.1:p.Cys1140Ter
ENST00000508989.5:c.3321C>A	ENSP00000425596.1:p.Cys1107Ter
ENST00000619499.4:c.3417C>A	ENSP00000482132.1:p.Cys1139Ter
NM_001999.3:c.3420C>A	NP_001990.2:p.Cys1140Ter
XM_017009228.2:c.3267C>A	XP_016864717.1:p.Cys1089Ter
NM_001999.4:c.3420C>A MANE Select	NP_001990.2:p.Cys1140Ter