Canonical Allele Identifier: CA360767404

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127693025A>G (hg19) ; chr5:g.128357333A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357333A>G , CM000667.2:g.128357333A>G	GRCh38
NC_000005.9:g.127693025A>G , CM000667.1:g.127693025A>G	GRCh37
NC_000005.8:g.127720924A>G	NCBI36
NG_008750.1:g.185711T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2617T>C MANE Select	ENSP00000262464.4:p.Phe873Leu
ENST00000262464.8:c.2617T>C	ENSP00000262464.4:p.Phe873Leu
ENST00000508053.5:c.2617T>C	ENSP00000424571.1:p.Phe873Leu
ENST00000508989.5:c.2518T>C	ENSP00000425596.1:p.Phe840Leu
ENST00000619499.4:c.2614T>C	ENSP00000482132.1:p.Phe872Leu
NM_001999.3:c.2617T>C	NP_001990.2:p.Phe873Leu
XM_017009228.2:c.2464T>C	XP_016864717.1:p.Phe822Leu
NM_001999.4:c.2617T>C MANE Select	NP_001990.2:p.Phe873Leu