Canonical Allele Identifier: CA1581268347

Gene: FBN2

Linked Data

• dbSNP Id: rs1750729434
• gnomAD v4: 5-128332853-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332853A>C , CM000667.2:g.128332853A>C	GRCh38
NC_000005.9:g.127668545A>C , CM000667.1:g.127668545A>C	GRCh37
NC_000005.8:g.127696444A>C	NCBI36
NG_008750.1:g.210191T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1006+59T>G
ENST00000703785.1:n.1087+59T>G
ENST00000262464.9:c.4222+59T>G MANE Select	ENSP00000262464.4:n.4222+59T>G
ENST00000262464.8:c.4222+59T>G	ENSP00000262464.4:n.4222+59T>G
ENST00000507835.5:c.772+59T>G	ENSP00000426839.1:n.772+59T>G
ENST00000508053.5:c.4222+59T>G	ENSP00000424571.1:n.4222+59T>G
ENST00000508989.5:c.4123+59T>G	ENSP00000425596.1:n.4123+59T>G
ENST00000619499.4:c.4219+59T>G	ENSP00000482132.1:n.4219+59T>G
NM_001999.3:c.4222+59T>G	NP_001990.2:n.4222+59T>G
XM_017009228.2:c.4069+59T>G	XP_016864717.1:n.4069+59T>G
NM_001999.4:c.4222+59T>G MANE Select	NP_001990.2:n.4222+59T>G