Canonical Allele Identifier: CA360767499

Gene: FBN2

Linked Data

• COSMIC: COSM4683821 ; COSM4683822
• MyVariant Identifiers: chr5:g.127693067T>C (hg19) ; chr5:g.128357375T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357375T>C , CM000667.2:g.128357375T>C	GRCh38
NC_000005.9:g.127693067T>C , CM000667.1:g.127693067T>C	GRCh37
NC_000005.8:g.127720966T>C	NCBI36
NG_008750.1:g.185669A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2575A>G MANE Select	ENSP00000262464.4:p.Asn859Asp
ENST00000262464.8:c.2575A>G	ENSP00000262464.4:p.Asn859Asp
ENST00000508053.5:c.2575A>G	ENSP00000424571.1:p.Asn859Asp
ENST00000508989.5:c.2476A>G	ENSP00000425596.1:p.Asn826Asp
ENST00000619499.4:c.2572A>G	ENSP00000482132.1:p.Asn858Asp
NM_001999.3:c.2575A>G	NP_001990.2:p.Asn859Asp
XM_017009228.2:c.2422A>G	XP_016864717.1:p.Asn808Asp
NM_001999.4:c.2575A>G MANE Select	NP_001990.2:p.Asn859Asp