Canonical Allele Identifier: CA360757325

Gene: FBN2

Linked Data

• COSMIC: COSM4546223 ; COSM4546224
• MyVariant Identifiers: chr5:g.127670880C>T (hg19) ; chr5:g.128335188C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335188C>T , CM000667.2:g.128335188C>T	GRCh38
NC_000005.9:g.127670880C>T , CM000667.1:g.127670880C>T	GRCh37
NC_000005.8:g.127698779C>T	NCBI36
NG_008750.1:g.207856G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.739G>A
ENST00000703785.1:n.820G>A
ENST00000262464.9:c.3955G>A MANE Select	ENSP00000262464.4:p.Asp1319Asn
ENST00000262464.8:c.3955G>A	ENSP00000262464.4:p.Asp1319Asn
ENST00000507835.5:c.505G>A	ENSP00000426839.1:p.Asp169Asn
ENST00000508053.5:c.3955G>A	ENSP00000424571.1:p.Asp1319Asn
ENST00000508989.5:c.3856G>A	ENSP00000425596.1:p.Asp1286Asn
ENST00000619499.4:c.3952G>A	ENSP00000482132.1:p.Asp1318Asn
NM_001999.3:c.3955G>A	NP_001990.2:p.Asp1319Asn
XM_017009228.2:c.3802G>A	XP_016864717.1:p.Asp1268Asn
NM_001999.4:c.3955G>A MANE Select	NP_001990.2:p.Asp1319Asn