Canonical Allele Identifier: CA3395244

Gene: FBN2

Linked Data

• ClinVar Variation Id: 239083
• ClinVar RCV Id: RCV000234651
• dbSNP Id: rs769005512
• ExAC: 5:127674683 A / G
• gnomAD v2: 5-127674683-A-G
• gnomAD v3: 5-128338991-A-G
• gnomAD v4: 5-128338991-A-G
• MyVariant Identifiers: chr5:g.127674683A>G (hg19) ; chr5:g.128338991A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338991A>G , CM000667.2:g.128338991A>G	GRCh38
NC_000005.9:g.127674683A>G , CM000667.1:g.127674683A>G	GRCh37
NC_000005.8:g.127702582A>G	NCBI36
NG_008750.1:g.204053T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.198T>C
ENST00000703785.1:n.279T>C
ENST00000262464.9:c.3414T>C MANE Select	ENSP00000262464.4:p.Phe1138=
ENST00000262464.8:c.3414T>C	ENSP00000262464.4:p.Phe1138=
ENST00000507835.5:c.-37T>C	ENSP00000426839.1:n.-37T>C
ENST00000508053.5:c.3414T>C	ENSP00000424571.1:p.Phe1138=
ENST00000508989.5:c.3315T>C	ENSP00000425596.1:p.Phe1105=
ENST00000619499.4:c.3411T>C	ENSP00000482132.1:p.Phe1137=
NM_001999.3:c.3414T>C	NP_001990.2:p.Phe1138=
XM_017009228.2:c.3261T>C	XP_016864717.1:p.Phe1087=
NM_001999.4:c.3414T>C MANE Select	NP_001990.2:p.Phe1138=