Canonical Allele Identifier: CA562715388

Gene: FBN2

Linked Data

• dbSNP Id: rs1316707699
• gnomAD v2: 5-127671023-A-G
• gnomAD v4: 5-128335331-A-G
• MyVariant Identifiers: chr5:g.127671023A>G (hg19) ; chr5:g.128335331A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335331A>G , CM000667.2:g.128335331A>G	GRCh38
NC_000005.9:g.127671023A>G , CM000667.1:g.127671023A>G	GRCh37
NC_000005.8:g.127698922A>G	NCBI36
NG_008750.1:g.207713T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.632-36T>C
ENST00000703785.1:n.713-36T>C
ENST00000262464.9:c.3848-36T>C MANE Select	ENSP00000262464.4:n.3848-36T>C
ENST00000262464.8:c.3848-36T>C	ENSP00000262464.4:n.3848-36T>C
ENST00000507835.5:c.398-36T>C	ENSP00000426839.1:n.398-36T>C
ENST00000508053.5:c.3848-36T>C	ENSP00000424571.1:n.3848-36T>C
ENST00000508989.5:c.3749-36T>C	ENSP00000425596.1:n.3749-36T>C
ENST00000619499.4:c.3845-36T>C	ENSP00000482132.1:n.3845-36T>C
NM_001999.3:c.3848-36T>C	NP_001990.2:n.3848-36T>C
XM_017009228.2:c.3695-36T>C	XP_016864717.1:n.3695-36T>C
NM_001999.4:c.3848-36T>C MANE Select	NP_001990.2:n.3848-36T>C