Canonical Allele Identifier: CA360758064

Gene: FBN2

Linked Data

• ClinVar Variation Id: 2760917
• ClinVar RCV Id: RCV003526385
• MyVariant Identifiers: chr5:g.127671224C>T (hg19) ; chr5:g.128335532C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335532C>T , CM000667.2:g.128335532C>T	GRCh38
NC_000005.9:g.127671224C>T , CM000667.1:g.127671224C>T	GRCh37
NC_000005.8:g.127699123C>T	NCBI36
NG_008750.1:g.207512G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.554G>A
ENST00000703785.1:n.635G>A
ENST00000262464.9:c.3770G>A MANE Select	ENSP00000262464.4:p.Cys1257Tyr
ENST00000262464.8:c.3770G>A	ENSP00000262464.4:p.Cys1257Tyr
ENST00000507835.5:c.320G>A	ENSP00000426839.1:p.Cys107Tyr
ENST00000508053.5:c.3770G>A	ENSP00000424571.1:p.Cys1257Tyr
ENST00000508989.5:c.3671G>A	ENSP00000425596.1:p.Cys1224Tyr
ENST00000619499.4:c.3767G>A	ENSP00000482132.1:p.Cys1256Tyr
NM_001999.3:c.3770G>A	NP_001990.2:p.Cys1257Tyr
XM_017009228.2:c.3617G>A	XP_016864717.1:p.Cys1206Tyr
NM_001999.4:c.3770G>A MANE Select	NP_001990.2:p.Cys1257Tyr