Canonical Allele Identifier: CA2675116646

Gene: FBN2

Linked Data

• gnomAD v4: 5-128330756-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330756T>C , CM000667.2:g.128330756T>C	GRCh38
NC_000005.9:g.127666448T>C , CM000667.1:g.127666448T>C	GRCh37
NC_000005.8:g.127694347T>C	NCBI36
NG_008750.1:g.212288A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1007-61A>G
ENST00000703785.1:n.1088-61A>G
ENST00000262464.9:c.4223-61A>G MANE Select	ENSP00000262464.4:n.4223-61A>G
ENST00000262464.8:c.4223-61A>G	ENSP00000262464.4:n.4223-61A>G
ENST00000507835.5:c.773-61A>G	ENSP00000426839.1:n.773-61A>G
ENST00000508053.5:c.4223-61A>G	ENSP00000424571.1:n.4223-61A>G
ENST00000508989.5:c.4124-61A>G	ENSP00000425596.1:n.4124-61A>G
ENST00000619499.4:c.4220-61A>G	ENSP00000482132.1:n.4220-61A>G
NM_001999.3:c.4223-61A>G	NP_001990.2:n.4223-61A>G
XM_017009228.2:c.4070-61A>G	XP_016864717.1:n.4070-61A>G
NM_001999.4:c.4223-61A>G MANE Select	NP_001990.2:n.4223-61A>G