Canonical Allele Identifier: CA360754014

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127666318G>C (hg19) ; chr5:g.128330626G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330626G>C , CM000667.2:g.128330626G>C	GRCh38
NC_000005.9:g.127666318G>C , CM000667.1:g.127666318G>C	GRCh37
NC_000005.8:g.127694217G>C	NCBI36
NG_008750.1:g.212418C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1076C>G
ENST00000703785.1:n.1157C>G
ENST00000262464.9:c.4292C>G MANE Select	ENSP00000262464.4:p.Ser1431Ter
ENST00000262464.8:c.4292C>G	ENSP00000262464.4:p.Ser1431Ter
ENST00000507835.5:c.842C>G	ENSP00000426839.1:p.Ser281Ter
ENST00000508053.5:c.4292C>G	ENSP00000424571.1:p.Ser1431Ter
ENST00000508989.5:c.4193C>G	ENSP00000425596.1:p.Ser1398Ter
ENST00000619499.4:c.4289C>G	ENSP00000482132.1:p.Ser1430Ter
NM_001999.3:c.4292C>G	NP_001990.2:p.Ser1431Ter
XM_017009228.2:c.4139C>G	XP_016864717.1:p.Ser1380Ter
NM_001999.4:c.4292C>G MANE Select	NP_001990.2:p.Ser1431Ter