Canonical Allele Identifier: CA360767437

Gene: FBN2

Linked Data

• ClinVar Variation Id: 2500677
• ClinVar RCV Id: RCV003225589
• MyVariant Identifiers: chr5:g.127693040T>C (hg19) ; chr5:g.128357348T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357348T>C , CM000667.2:g.128357348T>C	GRCh38
NC_000005.9:g.127693040T>C , CM000667.1:g.127693040T>C	GRCh37
NC_000005.8:g.127720939T>C	NCBI36
NG_008750.1:g.185696A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2602A>G MANE Select	ENSP00000262464.4:p.Asn868Asp
ENST00000262464.8:c.2602A>G	ENSP00000262464.4:p.Asn868Asp
ENST00000508053.5:c.2602A>G	ENSP00000424571.1:p.Asn868Asp
ENST00000508989.5:c.2503A>G	ENSP00000425596.1:p.Asn835Asp
ENST00000619499.4:c.2599A>G	ENSP00000482132.1:p.Asn867Asp
NM_001999.3:c.2602A>G	NP_001990.2:p.Asn868Asp
XM_017009228.2:c.2449A>G	XP_016864717.1:p.Asn817Asp
NM_001999.4:c.2602A>G MANE Select	NP_001990.2:p.Asn868Asp