Canonical Allele Identifier: CA446310071

Gene: FBN2

Linked Data

• ClinVar Variation Id: 2989823
• ClinVar RCV Id: RCV003842454
• MyVariant Identifiers: chr5:g.127670926A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335234A>G , CM000667.2:g.128335234A>G	GRCh38
NC_000005.9:g.127670926A>G , CM000667.1:g.127670926A>G	GRCh37
NC_000005.8:g.127698825A>G	NCBI36
NG_008750.1:g.207810T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.693T>C
ENST00000703785.1:n.774T>C
ENST00000262464.9:c.3909T>C MANE Select	ENSP00000262464.4:p.Pro1303=
ENST00000262464.8:c.3909T>C	ENSP00000262464.4:p.Pro1303=
ENST00000507835.5:c.459T>C	ENSP00000426839.1:p.Pro153=
ENST00000508053.5:c.3909T>C	ENSP00000424571.1:p.Pro1303=
ENST00000508989.5:c.3810T>C	ENSP00000425596.1:p.Pro1270=
ENST00000619499.4:c.3906T>C	ENSP00000482132.1:p.Pro1302=
NM_001999.3:c.3909T>C	NP_001990.2:p.Pro1303=
XM_017009228.2:c.3756T>C	XP_016864717.1:p.Pro1252=
NM_001999.4:c.3909T>C MANE Select	NP_001990.2:p.Pro1303=