Canonical Allele Identifier: CA127004815

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128328723G>C , CM000667.2:g.128328723G>C	GRCh38
NC_000005.9:g.127664415G>C , CM000667.1:g.127664415G>C	GRCh37
NC_000005.8:g.127692314G>C	NCBI36
NG_008750.1:g.214321C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1228C>G
ENST00000703785.1:n.1309C>G
ENST00000703786.1:n.1050C>G
ENST00000262464.9:c.4444C>G MANE Select	ENSP00000262464.4:p.Pro1482Ala
ENST00000262464.8:c.4444C>G	ENSP00000262464.4:p.Pro1482Ala
ENST00000507835.5:c.994C>G	ENSP00000426839.1:p.Pro332Ala
ENST00000508053.5:c.4444C>G	ENSP00000424571.1:p.Pro1482Ala
ENST00000508989.5:c.4345C>G	ENSP00000425596.1:p.Pro1449Ala
ENST00000619499.4:c.4441C>G	ENSP00000482132.1:p.Pro1481Ala
NM_001999.3:c.4444C>G	NP_001990.2:p.Pro1482Ala
XM_017009228.2:c.4291C>G	XP_016864717.1:p.Pro1431Ala
NM_001999.4:c.4444C>G MANE Select	NP_001990.2:p.Pro1482Ala