Canonical Allele Identifier: CA127050867

Gene: FBN2

Linked Data

• dbSNP Id: rs1011428190
• gnomAD v3: 5-128527817-T-G
• gnomAD v4: 5-128527817-T-G
• MyVariant Identifiers: chr5:g.127863510T>G (hg19) ; chr5:g.128527817T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128527817T>G , CM000667.2:g.128527817T>G	GRCh38
NC_000005.9:g.127863510T>G , CM000667.1:g.127863510T>G	GRCh37
NC_000005.8:g.127891409T>G	NCBI36
NG_008750.1:g.15226A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508053.6:c.532+55A>C	ENSP00000424571.2:n.532+55A>C
ENST00000703787.1:n.239+55A>C
ENST00000262464.9:c.532+55A>C MANE Select	ENSP00000262464.4:n.532+55A>C
ENST00000262464.8:c.532+55A>C	ENSP00000262464.4:n.532+55A>C
ENST00000502468.5:c.532+55A>C	ENSP00000424753.1:n.532+55A>C
ENST00000508053.5:c.532+55A>C	ENSP00000424571.1:n.532+55A>C
ENST00000508989.5:c.433+55A>C	ENSP00000425596.1:n.433+55A>C
ENST00000514742.1:n.1152+55A>C
ENST00000619499.4:c.532+55A>C	ENSP00000482132.1:n.532+55A>C
ENST00000620257.1:c.532+55A>C	ENSP00000479157.1:n.532+55A>C
NM_001999.3:c.532+55A>C	NP_001990.2:n.532+55A>C
XM_017009228.2:c.532+55A>C	XP_016864717.1:n.532+55A>C
NM_001999.4:c.532+55A>C MANE Select	NP_001990.2:n.532+55A>C