Canonical Allele Identifier: CA360759755

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338939A>G , CM000667.2:g.128338939A>G	GRCh38
NC_000005.9:g.127674631A>G , CM000667.1:g.127674631A>G	GRCh37
NC_000005.8:g.127702530A>G	NCBI36
NG_008750.1:g.204105T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.3466T>C MANE Select	NP_001990.2:p.Cys1156Arg
ENST00000262464.9:c.3466T>C MANE Select	ENSP00000262464.4:p.Cys1156Arg
NM_001999.3:c.3466T>C	NP_001990.2:p.Cys1156Arg
ENST00000262464.8:c.3466T>C	ENSP00000262464.4:p.Cys1156Arg
ENST00000507835.5:c.16T>C	ENSP00000426839.1:p.Cys6Arg
ENST00000508053.5:c.3466T>C	ENSP00000424571.1:p.Cys1156Arg
ENST00000508989.5:c.3367T>C	ENSP00000425596.1:p.Cys1123Arg
ENST00000619499.4:c.3463T>C	ENSP00000482132.1:p.Cys1155Arg
ENST00000703783.1:n.250T>C
ENST00000703785.1:n.331T>C
XM_017009228.2:c.3313T>C	XP_016864717.1:p.Cys1105Arg