Canonical Allele Identifier: CA360757963

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127671180A>G (hg19) ; chr5:g.128335488A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335488A>G , CM000667.2:g.128335488A>G	GRCh38
NC_000005.9:g.127671180A>G , CM000667.1:g.127671180A>G	GRCh37
NC_000005.8:g.127699079A>G	NCBI36
NG_008750.1:g.207556T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.598T>C
ENST00000703785.1:n.679T>C
ENST00000262464.9:c.3814T>C MANE Select	ENSP00000262464.4:p.Tyr1272His
ENST00000262464.8:c.3814T>C	ENSP00000262464.4:p.Tyr1272His
ENST00000507835.5:c.364T>C	ENSP00000426839.1:p.Tyr122His
ENST00000508053.5:c.3814T>C	ENSP00000424571.1:p.Tyr1272His
ENST00000508989.5:c.3715T>C	ENSP00000425596.1:p.Tyr1239His
ENST00000619499.4:c.3811T>C	ENSP00000482132.1:p.Tyr1271His
NM_001999.3:c.3814T>C	NP_001990.2:p.Tyr1272His
XM_017009228.2:c.3661T>C	XP_016864717.1:p.Tyr1221His
NM_001999.4:c.3814T>C MANE Select	NP_001990.2:p.Tyr1272His