Canonical Allele Identifier: CA360755229

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127668688T>A (hg19) ; chr5:g.128332996T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332996T>A , CM000667.2:g.128332996T>A	GRCh38
NC_000005.9:g.127668688T>A , CM000667.1:g.127668688T>A	GRCh37
NC_000005.8:g.127696587T>A	NCBI36
NG_008750.1:g.210048A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.922A>T
ENST00000703785.1:n.1003A>T
ENST00000262464.9:c.4138A>T MANE Select	ENSP00000262464.4:p.Met1380Leu
ENST00000262464.8:c.4138A>T	ENSP00000262464.4:p.Met1380Leu
ENST00000507835.5:c.688A>T	ENSP00000426839.1:p.Met230Leu
ENST00000508053.5:c.4138A>T	ENSP00000424571.1:p.Met1380Leu
ENST00000508989.5:c.4039A>T	ENSP00000425596.1:p.Met1347Leu
ENST00000619499.4:c.4135A>T	ENSP00000482132.1:p.Met1379Leu
NM_001999.3:c.4138A>T	NP_001990.2:p.Met1380Leu
XM_017009228.2:c.3985A>T	XP_016864717.1:p.Met1329Leu
NM_001999.4:c.4138A>T MANE Select	NP_001990.2:p.Met1380Leu