Canonical Allele Identifier: CA446310555

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127673708T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338016T>G , CM000667.2:g.128338016T>G	GRCh38
NC_000005.9:g.127673708T>G , CM000667.1:g.127673708T>G	GRCh37
NC_000005.8:g.127701607T>G	NCBI36
NG_008750.1:g.205028A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.363A>C
ENST00000703785.1:n.444A>C
ENST00000262464.9:c.3579A>C MANE Select	ENSP00000262464.4:p.Pro1193=
ENST00000262464.8:c.3579A>C	ENSP00000262464.4:p.Pro1193=
ENST00000507835.5:c.129A>C	ENSP00000426839.1:p.Pro43=
ENST00000508053.5:c.3579A>C	ENSP00000424571.1:p.Pro1193=
ENST00000508989.5:c.3480A>C	ENSP00000425596.1:p.Pro1160=
ENST00000619499.4:c.3576A>C	ENSP00000482132.1:p.Pro1192=
NM_001999.3:c.3579A>C	NP_001990.2:p.Pro1193=
XM_017009228.2:c.3426A>C	XP_016864717.1:p.Pro1142=
NM_001999.4:c.3579A>C MANE Select	NP_001990.2:p.Pro1193=