Canonical Allele Identifier: CA360750729

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127730888C>A (hg19) ; chr5:g.128395195C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128395195C>A , CM000667.2:g.128395195C>A	GRCh38
NC_000005.9:g.127730888C>A , CM000667.1:g.127730888C>A	GRCh37
NC_000005.8:g.127758787C>A	NCBI36
NG_008750.1:g.147848G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703787.1:n.865G>T
ENST00000262464.9:c.1158G>T MANE Select	ENSP00000262464.4:p.Met386Ile
ENST00000262464.8:c.1158G>T	ENSP00000262464.4:p.Met386Ile
ENST00000508053.5:c.1158G>T	ENSP00000424571.1:p.Met386Ile
ENST00000508989.5:c.1059G>T	ENSP00000425596.1:p.Met353Ile
ENST00000619499.4:c.1155G>T	ENSP00000482132.1:p.Met385Ile
NM_001999.3:c.1158G>T	NP_001990.2:p.Met386Ile
XM_017009228.2:c.1079-1827G>T	XP_016864717.1:n.1079-1827G>T
NM_001999.4:c.1158G>T MANE Select	NP_001990.2:p.Met386Ile