Canonical Allele Identifier: CA360758046

Gene: FBN2

Linked Data

• ClinVar Variation Id: 1708150
• ClinVar RCV Id: RCV002287303
• MyVariant Identifiers: chr5:g.127671216A>G (hg19) ; chr5:g.128335524A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335524A>G , CM000667.2:g.128335524A>G	GRCh38
NC_000005.9:g.127671216A>G , CM000667.1:g.127671216A>G	GRCh37
NC_000005.8:g.127699115A>G	NCBI36
NG_008750.1:g.207520T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.562T>C
ENST00000703785.1:n.643T>C
ENST00000262464.9:c.3778T>C MANE Select	ENSP00000262464.4:p.Ser1260Pro
ENST00000262464.8:c.3778T>C	ENSP00000262464.4:p.Ser1260Pro
ENST00000507835.5:c.328T>C	ENSP00000426839.1:p.Ser110Pro
ENST00000508053.5:c.3778T>C	ENSP00000424571.1:p.Ser1260Pro
ENST00000508989.5:c.3679T>C	ENSP00000425596.1:p.Ser1227Pro
ENST00000619499.4:c.3775T>C	ENSP00000482132.1:p.Ser1259Pro
NM_001999.3:c.3778T>C	NP_001990.2:p.Ser1260Pro
XM_017009228.2:c.3625T>C	XP_016864717.1:p.Ser1209Pro
NM_001999.4:c.3778T>C MANE Select	NP_001990.2:p.Ser1260Pro