Canonical Allele Identifier: CA446310057

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127670902A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335210A>G , CM000667.2:g.128335210A>G	GRCh38
NC_000005.9:g.127670902A>G , CM000667.1:g.127670902A>G	GRCh37
NC_000005.8:g.127698801A>G	NCBI36
NG_008750.1:g.207834T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.717T>C
ENST00000703785.1:n.798T>C
ENST00000262464.9:c.3933T>C MANE Select	ENSP00000262464.4:p.Tyr1311=
ENST00000262464.8:c.3933T>C	ENSP00000262464.4:p.Tyr1311=
ENST00000507835.5:c.483T>C	ENSP00000426839.1:p.Tyr161=
ENST00000508053.5:c.3933T>C	ENSP00000424571.1:p.Tyr1311=
ENST00000508989.5:c.3834T>C	ENSP00000425596.1:p.Tyr1278=
ENST00000619499.4:c.3930T>C	ENSP00000482132.1:p.Tyr1310=
NM_001999.3:c.3933T>C	NP_001990.2:p.Tyr1311=
XM_017009228.2:c.3780T>C	XP_016864717.1:p.Tyr1260=
NM_001999.4:c.3933T>C MANE Select	NP_001990.2:p.Tyr1311=