Canonical Allele Identifier: CA360759174

Gene: FBN2

Linked Data

• COSMIC: COSM5896760 ; COSM5896761
• MyVariant Identifiers: chr5:g.127673706G>T (hg19) ; chr5:g.128338014G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338014G>T , CM000667.2:g.128338014G>T	GRCh38
NC_000005.9:g.127673706G>T , CM000667.1:g.127673706G>T	GRCh37
NC_000005.8:g.127701605G>T	NCBI36
NG_008750.1:g.205030C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.365C>A
ENST00000703785.1:n.446C>A
ENST00000262464.9:c.3581C>A MANE Select	ENSP00000262464.4:p.Ser1194Tyr
ENST00000262464.8:c.3581C>A	ENSP00000262464.4:p.Ser1194Tyr
ENST00000507835.5:c.131C>A	ENSP00000426839.1:p.Ser44Tyr
ENST00000508053.5:c.3581C>A	ENSP00000424571.1:p.Ser1194Tyr
ENST00000508989.5:c.3482C>A	ENSP00000425596.1:p.Ser1161Tyr
ENST00000619499.4:c.3578C>A	ENSP00000482132.1:p.Ser1193Tyr
NM_001999.3:c.3581C>A	NP_001990.2:p.Ser1194Tyr
XM_017009228.2:c.3428C>A	XP_016864717.1:p.Ser1143Tyr
NM_001999.4:c.3581C>A MANE Select	NP_001990.2:p.Ser1194Tyr