Canonical Allele Identifier: CA3395108

Gene: FBN2

Linked Data

• ClinVar Variation Id: 3221957
• ClinVar RCV Id: RCV004511280
• dbSNP Id: rs146183629
• ExAC: 5:127670962 A / C
• gnomAD v2: 5-127670962-A-C
• gnomAD v3: 5-128335270-A-C
• gnomAD v4: 5-128335270-A-C
• MyVariant Identifiers: chr5:g.127670962A>C (hg19) ; chr5:g.128335270A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335270A>C , CM000667.2:g.128335270A>C	GRCh38
NC_000005.9:g.127670962A>C , CM000667.1:g.127670962A>C	GRCh37
NC_000005.8:g.127698861A>C	NCBI36
NG_008750.1:g.207774T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.657T>G
ENST00000703785.1:n.738T>G
ENST00000262464.9:c.3873T>G MANE Select	ENSP00000262464.4:p.Pro1291=
ENST00000262464.8:c.3873T>G	ENSP00000262464.4:p.Pro1291=
ENST00000507835.5:c.423T>G	ENSP00000426839.1:p.Pro141=
ENST00000508053.5:c.3873T>G	ENSP00000424571.1:p.Pro1291=
ENST00000508989.5:c.3774T>G	ENSP00000425596.1:p.Pro1258=
ENST00000619499.4:c.3870T>G	ENSP00000482132.1:p.Pro1290=
NM_001999.3:c.3873T>G	NP_001990.2:p.Pro1291=
XM_017009228.2:c.3720T>G	XP_016864717.1:p.Pro1240=
NM_001999.4:c.3873T>G MANE Select	NP_001990.2:p.Pro1291=