Canonical Allele Identifier: CA345813

Gene: FBN2

Linked Data

• ClinVar Variation Id: 155797
• ClinVar RCV Id: RCV000143897 ; RCV000534366 ; RCV001311668 ; RCV002055857
• dbSNP Id: rs374507398
• ExAC: 5:127609564 A / G
• gnomAD v2: 5-127609564-A-G
• gnomAD v3: 5-128273872-A-G
• gnomAD v4: 5-128273872-A-G
• MyVariant Identifiers: chr5:g.127609564A>G (hg19) ; chr5:g.128273872A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128273872A>G , CM000667.2:g.128273872A>G	GRCh38
NC_000005.9:g.127609564A>G , CM000667.1:g.127609564A>G	GRCh37
NC_000005.8:g.127637463A>G	NCBI36
NG_008750.1:g.269172T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.4592T>C
ENST00000262464.9:c.7808T>C MANE Select	ENSP00000262464.4:p.Phe2603Ser
ENST00000262464.8:c.7808T>C	ENSP00000262464.4:p.Phe2603Ser
ENST00000508053.5:c.7808T>C	ENSP00000424571.1:p.Phe2603Ser
ENST00000619499.4:c.7805T>C	ENSP00000482132.1:p.Phe2602Ser
NM_001999.3:c.7808T>C	NP_001990.2:p.Phe2603Ser
XM_017009228.2:c.7655T>C	XP_016864717.1:p.Phe2552Ser
NM_001999.4:c.7808T>C MANE Select	NP_001990.2:p.Phe2603Ser