Canonical Allele Identifier: CA645546421

Gene: FBN2

Linked Data

• COSMIC: COSM5402065 ; COSM5402066

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128300842_128300843delinsCC , CM000667.2:g.128300842_128300843delinsCC	GRCh38
NC_000005.9:g.127636534_127636535delinsCC , CM000667.1:g.127636534_127636535delinsCC	GRCh37
NC_000005.8:g.127664433_127664434delinsCC	NCBI36
NG_008750.1:g.242201_242202delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2924_2925delinsGG
ENST00000703785.1:n.2843_2844delinsGG
ENST00000262464.9:c.6140_6141delinsGG MANE Select	ENSP00000262464.4:p.Tyr2047Trp
ENST00000262464.8:c.6140_6141delinsGG	ENSP00000262464.4:p.Tyr2047Trp
ENST00000508053.5:c.6140_6141delinsGG	ENSP00000424571.1:p.Tyr2047Trp
ENST00000619499.4:c.6137_6138delinsGG	ENSP00000482132.1:p.Tyr2046Trp
NM_001999.3:c.6140_6141delinsGG	NP_001990.2:p.Tyr2047Trp
XM_017009228.2:c.5987_5988delinsGG	XP_016864717.1:p.Tyr1996Trp
NM_001999.4:c.6140_6141delinsGG MANE Select	NP_001990.2:p.Tyr2047Trp