Canonical Allele Identifier: CA3395241

Gene: FBN2

Linked Data

• ClinVar Variation Id: 493415
• ClinVar RCV Id: RCV000584859 ; RCV002530859
• dbSNP Id: rs756541654
• ExAC: 5:127674677 G / A
• gnomAD v2: 5-127674677-G-A
• gnomAD v3: 5-128338985-G-A
• gnomAD v4: 5-128338985-G-A
• COSMIC: COSM1060361 ; COSM1060362
• MyVariant Identifiers: chr5:g.127674677G>A (hg19) ; chr5:g.128338985G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338985G>A , CM000667.2:g.128338985G>A	GRCh38
NC_000005.9:g.127674677G>A , CM000667.1:g.127674677G>A	GRCh37
NC_000005.8:g.127702576G>A	NCBI36
NG_008750.1:g.204059C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.204C>T
ENST00000703785.1:n.285C>T
ENST00000262464.9:c.3420C>T MANE Select	ENSP00000262464.4:p.Cys1140=
ENST00000262464.8:c.3420C>T	ENSP00000262464.4:p.Cys1140=
ENST00000507835.5:c.-31C>T	ENSP00000426839.1:n.-31C>T
ENST00000508053.5:c.3420C>T	ENSP00000424571.1:p.Cys1140=
ENST00000508989.5:c.3321C>T	ENSP00000425596.1:p.Cys1107=
ENST00000619499.4:c.3417C>T	ENSP00000482132.1:p.Cys1139=
NM_001999.3:c.3420C>T	NP_001990.2:p.Cys1140=
XM_017009228.2:c.3267C>T	XP_016864717.1:p.Cys1089=
NM_001999.4:c.3420C>T MANE Select	NP_001990.2:p.Cys1140=