Canonical Allele Identifier: CA360759499

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127673788G>A (hg19) ; chr5:g.128338096G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338096G>A , CM000667.2:g.128338096G>A	GRCh38
NC_000005.9:g.127673788G>A , CM000667.1:g.127673788G>A	GRCh37
NC_000005.8:g.127701687G>A	NCBI36
NG_008750.1:g.204948C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.283C>T
ENST00000703785.1:n.364C>T
ENST00000262464.9:c.3499C>T MANE Select	ENSP00000262464.4:p.Leu1167Phe
ENST00000262464.8:c.3499C>T	ENSP00000262464.4:p.Leu1167Phe
ENST00000507835.5:c.49C>T	ENSP00000426839.1:p.Leu17Phe
ENST00000508053.5:c.3499C>T	ENSP00000424571.1:p.Leu1167Phe
ENST00000508989.5:c.3400C>T	ENSP00000425596.1:p.Leu1134Phe
ENST00000619499.4:c.3496C>T	ENSP00000482132.1:p.Leu1166Phe
NM_001999.3:c.3499C>T	NP_001990.2:p.Leu1167Phe
XM_017009228.2:c.3346C>T	XP_016864717.1:p.Leu1116Phe
NM_001999.4:c.3499C>T MANE Select	NP_001990.2:p.Leu1167Phe