Canonical Allele Identifier: CA446308431

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127863617T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128527924T>G , CM000667.2:g.128527924T>G	GRCh38
NC_000005.9:g.127863617T>G , CM000667.1:g.127863617T>G	GRCh37
NC_000005.8:g.127891516T>G	NCBI36
NG_008750.1:g.15119A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000508053.6:c.480A>C	ENSP00000424571.2:p.Ala160=
ENST00000703787.1:n.187A>C
ENST00000262464.9:c.480A>C MANE Select	ENSP00000262464.4:p.Ala160=
ENST00000262464.8:c.480A>C	ENSP00000262464.4:p.Ala160=
ENST00000502468.5:c.480A>C	ENSP00000424753.1:p.Ala160=
ENST00000508053.5:c.480A>C	ENSP00000424571.1:p.Ala160=
ENST00000508989.5:c.381A>C	ENSP00000425596.1:p.Ala127=
ENST00000514742.1:n.1100A>C
ENST00000619499.4:c.480A>C	ENSP00000482132.1:p.Ala160=
ENST00000620257.1:c.480A>C	ENSP00000479157.1:p.Ala160=
NM_001999.3:c.480A>C	NP_001990.2:p.Ala160=
XM_017009228.2:c.480A>C	XP_016864717.1:p.Ala160=
NM_001999.4:c.480A>C MANE Select	NP_001990.2:p.Ala160=