Canonical Allele Identifier: CA360753951

Gene: FBN2

Linked Data

• COSMIC: COSM3696896 ; COSM3696897
• MyVariant Identifiers: chr5:g.127666303C>A (hg19) ; chr5:g.128330611C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330611C>A , CM000667.2:g.128330611C>A	GRCh38
NC_000005.9:g.127666303C>A , CM000667.1:g.127666303C>A	GRCh37
NC_000005.8:g.127694202C>A	NCBI36
NG_008750.1:g.212433G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1091G>T
ENST00000703785.1:n.1172G>T
ENST00000262464.9:c.4307G>T MANE Select	ENSP00000262464.4:p.Cys1436Phe
ENST00000262464.8:c.4307G>T	ENSP00000262464.4:p.Cys1436Phe
ENST00000507835.5:c.857G>T	ENSP00000426839.1:p.Cys286Phe
ENST00000508053.5:c.4307G>T	ENSP00000424571.1:p.Cys1436Phe
ENST00000508989.5:c.4208G>T	ENSP00000425596.1:p.Cys1403Phe
ENST00000619499.4:c.4304G>T	ENSP00000482132.1:p.Cys1435Phe
NM_001999.3:c.4307G>T	NP_001990.2:p.Cys1436Phe
XM_017009228.2:c.4154G>T	XP_016864717.1:p.Cys1385Phe
NM_001999.4:c.4307G>T MANE Select	NP_001990.2:p.Cys1436Phe