Canonical Allele Identifier: CA1139532428

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332908T>G , CM000667.2:g.128332908T>G	GRCh38
NC_000005.9:g.127668600T>G , CM000667.1:g.127668600T>G	GRCh37
NC_000005.8:g.127696499T>G	NCBI36
NG_008750.1:g.210136A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1006+4A>C
ENST00000703785.1:n.1087+4A>C
ENST00000262464.9:c.4222+4A>C MANE Select	ENSP00000262464.4:n.4222+4A>C
ENST00000262464.8:c.4222+4A>C	ENSP00000262464.4:n.4222+4A>C
ENST00000507835.5:c.772+4A>C	ENSP00000426839.1:n.772+4A>C
ENST00000508053.5:c.4222+4A>C	ENSP00000424571.1:n.4222+4A>C
ENST00000508989.5:c.4123+4A>C	ENSP00000425596.1:n.4123+4A>C
ENST00000619499.4:c.4219+4A>C	ENSP00000482132.1:n.4219+4A>C
NM_001999.3:c.4222+4A>C	NP_001990.2:n.4222+4A>C
XM_017009228.2:c.4069+4A>C	XP_016864717.1:n.4069+4A>C
NM_001999.4:c.4222+4A>C MANE Select	NP_001990.2:n.4222+4A>C