Canonical Allele Identifier: CA446310581

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127673726C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338034C>G , CM000667.2:g.128338034C>G	GRCh38
NC_000005.9:g.127673726C>G , CM000667.1:g.127673726C>G	GRCh37
NC_000005.8:g.127701625C>G	NCBI36
NG_008750.1:g.205010G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.345G>C
ENST00000703785.1:n.426G>C
ENST00000262464.9:c.3561G>C MANE Select	ENSP00000262464.4:p.Leu1187=
ENST00000262464.8:c.3561G>C	ENSP00000262464.4:p.Leu1187=
ENST00000507835.5:c.111G>C	ENSP00000426839.1:p.Leu37=
ENST00000508053.5:c.3561G>C	ENSP00000424571.1:p.Leu1187=
ENST00000508989.5:c.3462G>C	ENSP00000425596.1:p.Leu1154=
ENST00000619499.4:c.3558G>C	ENSP00000482132.1:p.Leu1186=
NM_001999.3:c.3561G>C	NP_001990.2:p.Leu1187=
XM_017009228.2:c.3408G>C	XP_016864717.1:p.Leu1136=
NM_001999.4:c.3561G>C MANE Select	NP_001990.2:p.Leu1187=