Canonical Allele Identifier: CA345813

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128273872A>G , CM000667.2:g.128273872A>G	GRCh38
NC_000005.9:g.127609564A>G , CM000667.1:g.127609564A>G	GRCh37
NC_000005.8:g.127637463A>G	NCBI36
NG_008750.1:g.269172T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.7808T>C MANE Select	NP_001990.2:p.Phe2603Ser
ENST00000262464.9:c.7808T>C MANE Select	ENSP00000262464.4:p.Phe2603Ser
NM_001999.3:c.7808T>C	NP_001990.2:p.Phe2603Ser
ENST00000262464.8:c.7808T>C	ENSP00000262464.4:p.Phe2603Ser
ENST00000508053.5:c.7808T>C	ENSP00000424571.1:p.Phe2603Ser
ENST00000619499.4:c.7805T>C	ENSP00000482132.1:p.Phe2602Ser
ENST00000703783.1:n.4592T>C
XM_017009228.2:c.7655T>C	XP_016864717.1:p.Phe2552Ser