Canonical Allele Identifier: CA803637264

Gene: FBN2

Linked Data

• dbSNP Id: rs1178809320
• gnomAD v3: 5-128335651-A-G
• gnomAD v4: 5-128335651-A-G
• MyVariant Identifiers: chr5:g.127671343A>G (hg19) ; chr5:g.128335651A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335651A>G , CM000667.2:g.128335651A>G	GRCh38
NC_000005.9:g.127671343A>G , CM000667.1:g.127671343A>G	GRCh37
NC_000005.8:g.127699242A>G	NCBI36
NG_008750.1:g.207393T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.509-74T>C
ENST00000703785.1:n.590-74T>C
ENST00000262464.9:c.3725-74T>C MANE Select	ENSP00000262464.4:n.3725-74T>C
ENST00000262464.8:c.3725-74T>C	ENSP00000262464.4:n.3725-74T>C
ENST00000507835.5:c.275-74T>C	ENSP00000426839.1:n.275-74T>C
ENST00000508053.5:c.3725-74T>C	ENSP00000424571.1:n.3725-74T>C
ENST00000508989.5:c.3626-74T>C	ENSP00000425596.1:n.3626-74T>C
ENST00000619499.4:c.3722-74T>C	ENSP00000482132.1:n.3722-74T>C
NM_001999.3:c.3725-74T>C	NP_001990.2:n.3725-74T>C
XM_017009228.2:c.3572-74T>C	XP_016864717.1:n.3572-74T>C
NM_001999.4:c.3725-74T>C MANE Select	NP_001990.2:n.3725-74T>C