Canonical Allele Identifier: CA360767339

Gene: FBN2

Linked Data

• COSMIC: COSM1633906 ; COSM1633907
• MyVariant Identifiers: chr5:g.127692996T>G (hg19) ; chr5:g.128357304T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357304T>G , CM000667.2:g.128357304T>G	GRCh38
NC_000005.9:g.127692996T>G , CM000667.1:g.127692996T>G	GRCh37
NC_000005.8:g.127720895T>G	NCBI36
NG_008750.1:g.185740A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2646A>C MANE Select	ENSP00000262464.4:p.Lys882Asn
ENST00000262464.8:c.2646A>C	ENSP00000262464.4:p.Lys882Asn
ENST00000508053.5:c.2646A>C	ENSP00000424571.1:p.Lys882Asn
ENST00000508989.5:c.2547A>C	ENSP00000425596.1:p.Lys849Asn
ENST00000619499.4:c.2643A>C	ENSP00000482132.1:p.Lys881Asn
NM_001999.3:c.2646A>C	NP_001990.2:p.Lys882Asn
XM_017009228.2:c.2493A>C	XP_016864717.1:p.Lys831Asn
NM_001999.4:c.2646A>C MANE Select	NP_001990.2:p.Lys882Asn