Canonical Allele Identifier: CA360755427

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127668715A>C (hg19) ; chr5:g.128333023A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333023A>C , CM000667.2:g.128333023A>C	GRCh38
NC_000005.9:g.127668715A>C , CM000667.1:g.127668715A>C	GRCh37
NC_000005.8:g.127696614A>C	NCBI36
NG_008750.1:g.210021T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.895T>G
ENST00000703785.1:n.976T>G
ENST00000262464.9:c.4111T>G MANE Select	ENSP00000262464.4:p.Cys1371Gly
ENST00000262464.8:c.4111T>G	ENSP00000262464.4:p.Cys1371Gly
ENST00000507835.5:c.661T>G	ENSP00000426839.1:p.Cys221Gly
ENST00000508053.5:c.4111T>G	ENSP00000424571.1:p.Cys1371Gly
ENST00000508989.5:c.4012T>G	ENSP00000425596.1:p.Cys1338Gly
ENST00000619499.4:c.4108T>G	ENSP00000482132.1:p.Cys1370Gly
NM_001999.3:c.4111T>G	NP_001990.2:p.Cys1371Gly
XM_017009228.2:c.3958T>G	XP_016864717.1:p.Cys1320Gly
NM_001999.4:c.4111T>G MANE Select	NP_001990.2:p.Cys1371Gly