Canonical Allele Identifier: CA360758325

Gene: FBN2

Linked Data

• ClinVar Variation Id: 2700714
• ClinVar RCV Id: RCV003525583
• MyVariant Identifiers: chr5:g.127671750G>C (hg19) ; chr5:g.128336058G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128336058G>C , CM000667.2:g.128336058G>C	GRCh38
NC_000005.9:g.127671750G>C , CM000667.1:g.127671750G>C	GRCh37
NC_000005.8:g.127699649G>C	NCBI36
NG_008750.1:g.206986C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.438C>G
ENST00000703785.1:n.519C>G
ENST00000262464.9:c.3654C>G MANE Select	ENSP00000262464.4:p.Asn1218Lys
ENST00000262464.8:c.3654C>G	ENSP00000262464.4:p.Asn1218Lys
ENST00000507835.5:c.204C>G	ENSP00000426839.1:p.Asn68Lys
ENST00000508053.5:c.3654C>G	ENSP00000424571.1:p.Asn1218Lys
ENST00000508989.5:c.3555C>G	ENSP00000425596.1:p.Asn1185Lys
ENST00000619499.4:c.3651C>G	ENSP00000482132.1:p.Asn1217Lys
NM_001999.3:c.3654C>G	NP_001990.2:p.Asn1218Lys
XM_017009228.2:c.3501C>G	XP_016864717.1:p.Asn1167Lys
NM_001999.4:c.3654C>G MANE Select	NP_001990.2:p.Asn1218Lys