Canonical Allele Identifier: CA360761663

Gene: FBN2

Linked Data

• ClinVar Variation Id: 2956390
• ClinVar RCV Id: RCV003814126
• MyVariant Identifiers: chr5:g.127680085T>C (hg19) ; chr5:g.128344393T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128344393T>C , CM000667.2:g.128344393T>C	GRCh38
NC_000005.9:g.127680085T>C , CM000667.1:g.127680085T>C	GRCh37
NC_000005.8:g.127707984T>C	NCBI36
NG_008750.1:g.198651A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262464.9:c.3335A>G MANE Select	ENSP00000262464.4:p.Asn1112Ser
ENST00000262464.8:c.3335A>G	ENSP00000262464.4:p.Asn1112Ser
ENST00000508053.5:c.3335A>G	ENSP00000424571.1:p.Asn1112Ser
ENST00000508989.5:c.3236A>G	ENSP00000425596.1:p.Asn1079Ser
ENST00000619499.4:c.3332A>G	ENSP00000482132.1:p.Asn1111Ser
NM_001999.3:c.3335A>G	NP_001990.2:p.Asn1112Ser
XM_017009228.2:c.3182A>G	XP_016864717.1:p.Asn1061Ser
NM_001999.4:c.3335A>G MANE Select	NP_001990.2:p.Asn1112Ser