Canonical Allele Identifier: CA360753894

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127666290G>C (hg19) ; chr5:g.128330598G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330598G>C , CM000667.2:g.128330598G>C	GRCh38
NC_000005.9:g.127666290G>C , CM000667.1:g.127666290G>C	GRCh37
NC_000005.8:g.127694189G>C	NCBI36
NG_008750.1:g.212446C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1104C>G
ENST00000703785.1:n.1185C>G
ENST00000262464.9:c.4320C>G MANE Select	ENSP00000262464.4:p.Phe1440Leu
ENST00000262464.8:c.4320C>G	ENSP00000262464.4:p.Phe1440Leu
ENST00000507835.5:c.870C>G	ENSP00000426839.1:p.Phe290Leu
ENST00000508053.5:c.4320C>G	ENSP00000424571.1:p.Phe1440Leu
ENST00000508989.5:c.4221C>G	ENSP00000425596.1:p.Phe1407Leu
ENST00000619499.4:c.4317C>G	ENSP00000482132.1:p.Phe1439Leu
NM_001999.3:c.4320C>G	NP_001990.2:p.Phe1440Leu
XM_017009228.2:c.4167C>G	XP_016864717.1:p.Phe1389Leu
NM_001999.4:c.4320C>G MANE Select	NP_001990.2:p.Phe1440Leu