Canonical Allele Identifier: CA3395869

Gene: FBN2

Linked Data

• ClinVar Variation Id: 906184
• ClinVar RCV Id: RCV001155174
• dbSNP Id: rs750949734
• ExAC: 5:127730889 A / G
• gnomAD v2: 5-127730889-A-G
• gnomAD v3: 5-128395196-A-G
• gnomAD v4: 5-128395196-A-G
• MyVariant Identifiers: chr5:g.127730889A>G (hg19) ; chr5:g.128395196A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128395196A>G , CM000667.2:g.128395196A>G	GRCh38
NC_000005.9:g.127730889A>G , CM000667.1:g.127730889A>G	GRCh37
NC_000005.8:g.127758788A>G	NCBI36
NG_008750.1:g.147847T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703787.1:n.864T>C
ENST00000262464.9:c.1157T>C MANE Select	ENSP00000262464.4:p.Met386Thr
ENST00000262464.8:c.1157T>C	ENSP00000262464.4:p.Met386Thr
ENST00000508053.5:c.1157T>C	ENSP00000424571.1:p.Met386Thr
ENST00000508989.5:c.1058T>C	ENSP00000425596.1:p.Met353Thr
ENST00000619499.4:c.1154T>C	ENSP00000482132.1:p.Met385Thr
NM_001999.3:c.1157T>C	NP_001990.2:p.Met386Thr
XM_017009228.2:c.1079-1828T>C	XP_016864717.1:n.1079-1828T>C
NM_001999.4:c.1157T>C MANE Select	NP_001990.2:p.Met386Thr