Canonical Allele Identifier: CA360754209

Gene: FBN2

Linked Data

• ClinVar Variation Id: 3014946
• ClinVar RCV Id: RCV003878569
• dbSNP Id: rs138289440
• gnomAD v4: 5-128330688-G-T
• MyVariant Identifiers: chr5:g.127666380G>T (hg19) ; chr5:g.128330688G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330688G>T , CM000667.2:g.128330688G>T	GRCh38
NC_000005.9:g.127666380G>T , CM000667.1:g.127666380G>T	GRCh37
NC_000005.8:g.127694279G>T	NCBI36
NG_008750.1:g.212356C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1014C>A
ENST00000703785.1:n.1095C>A
ENST00000262464.9:c.4230C>A MANE Select	ENSP00000262464.4:p.Asp1410Glu
ENST00000262464.8:c.4230C>A	ENSP00000262464.4:p.Asp1410Glu
ENST00000507835.5:c.780C>A	ENSP00000426839.1:p.Asp260Glu
ENST00000508053.5:c.4230C>A	ENSP00000424571.1:p.Asp1410Glu
ENST00000508989.5:c.4131C>A	ENSP00000425596.1:p.Asp1377Glu
ENST00000619499.4:c.4227C>A	ENSP00000482132.1:p.Asp1409Glu
NM_001999.3:c.4230C>A	NP_001990.2:p.Asp1410Glu
XM_017009228.2:c.4077C>A	XP_016864717.1:p.Asp1359Glu
NM_001999.4:c.4230C>A MANE Select	NP_001990.2:p.Asp1410Glu