Canonical Allele Identifier: CA360759608

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127673812T>G (hg19) ; chr5:g.128338120T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338120T>G , CM000667.2:g.128338120T>G	GRCh38
NC_000005.9:g.127673812T>G , CM000667.1:g.127673812T>G	GRCh37
NC_000005.8:g.127701711T>G	NCBI36
NG_008750.1:g.204924A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.259A>C
ENST00000703785.1:n.340A>C
ENST00000262464.9:c.3475A>C MANE Select	ENSP00000262464.4:p.Ile1159Leu
ENST00000262464.8:c.3475A>C	ENSP00000262464.4:p.Ile1159Leu
ENST00000507835.5:c.25A>C	ENSP00000426839.1:p.Ile9Leu
ENST00000508053.5:c.3475A>C	ENSP00000424571.1:p.Ile1159Leu
ENST00000508989.5:c.3376A>C	ENSP00000425596.1:p.Ile1126Leu
ENST00000619499.4:c.3472A>C	ENSP00000482132.1:p.Ile1158Leu
NM_001999.3:c.3475A>C	NP_001990.2:p.Ile1159Leu
XM_017009228.2:c.3322A>C	XP_016864717.1:p.Ile1108Leu
NM_001999.4:c.3475A>C MANE Select	NP_001990.2:p.Ile1159Leu