Canonical Allele Identifier: CA360753843

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127666277A>G (hg19) ; chr5:g.128330585A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330585A>G , CM000667.2:g.128330585A>G	GRCh38
NC_000005.9:g.127666277A>G , CM000667.1:g.127666277A>G	GRCh37
NC_000005.8:g.127694176A>G	NCBI36
NG_008750.1:g.212459T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1117T>C
ENST00000703785.1:n.1198T>C
ENST00000262464.9:c.4333T>C MANE Select	ENSP00000262464.4:p.Phe1445Leu
ENST00000262464.8:c.4333T>C	ENSP00000262464.4:p.Phe1445Leu
ENST00000507835.5:c.883T>C	ENSP00000426839.1:p.Phe295Leu
ENST00000508053.5:c.4333T>C	ENSP00000424571.1:p.Phe1445Leu
ENST00000508989.5:c.4234T>C	ENSP00000425596.1:p.Phe1412Leu
ENST00000619499.4:c.4330T>C	ENSP00000482132.1:p.Phe1444Leu
NM_001999.3:c.4333T>C	NP_001990.2:p.Phe1445Leu
XM_017009228.2:c.4180T>C	XP_016864717.1:p.Phe1394Leu
NM_001999.4:c.4333T>C MANE Select	NP_001990.2:p.Phe1445Leu