Canonical Allele Identifier: CA3395669

Gene: FBN2

Linked Data

• ClinVar Variation Id: 523041
• ClinVar RCV Id: RCV000626246 ; RCV001195376 ; RCV002223891 ; RCV002420655
• dbSNP Id: rs760483684
• ExAC: 5:127710380 G / A
• gnomAD v2: 5-127710380-G-A
• gnomAD v4: 5-128374687-G-A
• COSMIC: COSM4476039 ; COSM4476040
• MyVariant Identifiers: chr5:g.127710380G>A (hg19) ; chr5:g.128374687G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128374687G>A , CM000667.2:g.128374687G>A	GRCh38
NC_000005.9:g.127710380G>A , CM000667.1:g.127710380G>A	GRCh37
NC_000005.8:g.127738279G>A	NCBI36
NG_008750.1:g.168356C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2036C>T MANE Select	ENSP00000262464.4:p.Ser679Phe
ENST00000262464.8:c.2036C>T	ENSP00000262464.4:p.Ser679Phe
ENST00000508053.5:c.2036C>T	ENSP00000424571.1:p.Ser679Phe
ENST00000508989.5:c.1937C>T	ENSP00000425596.1:p.Ser646Phe
ENST00000511489.1:n.257C>T
ENST00000619499.4:c.2033C>T	ENSP00000482132.1:p.Ser678Phe
NM_001999.3:c.2036C>T	NP_001990.2:p.Ser679Phe
XM_017009228.2:c.1883C>T	XP_016864717.1:p.Ser628Phe
NM_001999.4:c.2036C>T MANE Select	NP_001990.2:p.Ser679Phe