Canonical Allele Identifier: CA360754057

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127666329A>T (hg19) ; chr5:g.128330637A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330637A>T , CM000667.2:g.128330637A>T	GRCh38
NC_000005.9:g.127666329A>T , CM000667.1:g.127666329A>T	GRCh37
NC_000005.8:g.127694228A>T	NCBI36
NG_008750.1:g.212407T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1065T>A
ENST00000703785.1:n.1146T>A
ENST00000262464.9:c.4281T>A MANE Select	ENSP00000262464.4:p.Asn1427Lys
ENST00000262464.8:c.4281T>A	ENSP00000262464.4:p.Asn1427Lys
ENST00000507835.5:c.831T>A	ENSP00000426839.1:p.Asn277Lys
ENST00000508053.5:c.4281T>A	ENSP00000424571.1:p.Asn1427Lys
ENST00000508989.5:c.4182T>A	ENSP00000425596.1:p.Asn1394Lys
ENST00000619499.4:c.4278T>A	ENSP00000482132.1:p.Asn1426Lys
NM_001999.3:c.4281T>A	NP_001990.2:p.Asn1427Lys
XM_017009228.2:c.4128T>A	XP_016864717.1:p.Asn1376Lys
NM_001999.4:c.4281T>A MANE Select	NP_001990.2:p.Asn1427Lys