Canonical Allele Identifier: CA360754033

Gene: FBN2

Linked Data

• COSMIC: COSM222070 ; COSM222071
• MyVariant Identifiers: chr5:g.127666322C>T (hg19) ; chr5:g.128330630C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330630C>T , CM000667.2:g.128330630C>T	GRCh38
NC_000005.9:g.127666322C>T , CM000667.1:g.127666322C>T	GRCh37
NC_000005.8:g.127694221C>T	NCBI36
NG_008750.1:g.212414G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1072G>A
ENST00000703785.1:n.1153G>A
ENST00000262464.9:c.4288G>A MANE Select	ENSP00000262464.4:p.Gly1430Ser
ENST00000262464.8:c.4288G>A	ENSP00000262464.4:p.Gly1430Ser
ENST00000507835.5:c.838G>A	ENSP00000426839.1:p.Gly280Ser
ENST00000508053.5:c.4288G>A	ENSP00000424571.1:p.Gly1430Ser
ENST00000508989.5:c.4189G>A	ENSP00000425596.1:p.Gly1397Ser
ENST00000619499.4:c.4285G>A	ENSP00000482132.1:p.Gly1429Ser
NM_001999.3:c.4288G>A	NP_001990.2:p.Gly1430Ser
XM_017009228.2:c.4135G>A	XP_016864717.1:p.Gly1379Ser
NM_001999.4:c.4288G>A MANE Select	NP_001990.2:p.Gly1430Ser