Canonical Allele Identifier: CA360757910

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127671156A>C (hg19) ; chr5:g.128335464A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335464A>C , CM000667.2:g.128335464A>C	GRCh38
NC_000005.9:g.127671156A>C , CM000667.1:g.127671156A>C	GRCh37
NC_000005.8:g.127699055A>C	NCBI36
NG_008750.1:g.207580T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.622T>G
ENST00000703785.1:n.703T>G
ENST00000262464.9:c.3838T>G MANE Select	ENSP00000262464.4:p.Ser1280Ala
ENST00000262464.8:c.3838T>G	ENSP00000262464.4:p.Ser1280Ala
ENST00000507835.5:c.388T>G	ENSP00000426839.1:p.Ser130Ala
ENST00000508053.5:c.3838T>G	ENSP00000424571.1:p.Ser1280Ala
ENST00000508989.5:c.3739T>G	ENSP00000425596.1:p.Ser1247Ala
ENST00000619499.4:c.3835T>G	ENSP00000482132.1:p.Ser1279Ala
NM_001999.3:c.3838T>G	NP_001990.2:p.Ser1280Ala
XM_017009228.2:c.3685T>G	XP_016864717.1:p.Ser1229Ala
NM_001999.4:c.3838T>G MANE Select	NP_001990.2:p.Ser1280Ala