Canonical Allele Identifier: CA360759604

Gene: FBN2

Linked Data

• COSMIC: COSM6101614 ; COSM6101615
• MyVariant Identifiers: chr5:g.127673811A>T (hg19) ; chr5:g.128338119A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338119A>T , CM000667.2:g.128338119A>T	GRCh38
NC_000005.9:g.127673811A>T , CM000667.1:g.127673811A>T	GRCh37
NC_000005.8:g.127701710A>T	NCBI36
NG_008750.1:g.204925T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.260T>A
ENST00000703785.1:n.341T>A
ENST00000262464.9:c.3476T>A MANE Select	ENSP00000262464.4:p.Ile1159Asn
ENST00000262464.8:c.3476T>A	ENSP00000262464.4:p.Ile1159Asn
ENST00000507835.5:c.26T>A	ENSP00000426839.1:p.Ile9Asn
ENST00000508053.5:c.3476T>A	ENSP00000424571.1:p.Ile1159Asn
ENST00000508989.5:c.3377T>A	ENSP00000425596.1:p.Ile1126Asn
ENST00000619499.4:c.3473T>A	ENSP00000482132.1:p.Ile1158Asn
NM_001999.3:c.3476T>A	NP_001990.2:p.Ile1159Asn
XM_017009228.2:c.3323T>A	XP_016864717.1:p.Ile1108Asn
NM_001999.4:c.3476T>A MANE Select	NP_001990.2:p.Ile1159Asn