Canonical Allele Identifier: CA360753366

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128328823T>G , CM000667.2:g.128328823T>G	GRCh38
NC_000005.9:g.127664515T>G , CM000667.1:g.127664515T>G	GRCh37
NC_000005.8:g.127692414T>G	NCBI36
NG_008750.1:g.214221A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1130-2A>C
ENST00000703785.1:n.1211-2A>C
ENST00000703786.1:n.950A>C
ENST00000262464.9:c.4346-2A>C MANE Select	ENSP00000262464.4:n.4346-2A>C
ENST00000262464.8:c.4346-2A>C	ENSP00000262464.4:n.4346-2A>C
ENST00000507835.5:c.896-2A>C	ENSP00000426839.1:n.896-2A>C
ENST00000508053.5:c.4346-2A>C	ENSP00000424571.1:n.4346-2A>C
ENST00000508989.5:c.4247-2A>C	ENSP00000425596.1:n.4247-2A>C
ENST00000619499.4:c.4343-2A>C	ENSP00000482132.1:n.4343-2A>C
NM_001999.3:c.4346-2A>C	NP_001990.2:n.4346-2A>C
XM_017009228.2:c.4193-2A>C	XP_016864717.1:n.4193-2A>C
NM_001999.4:c.4346-2A>C MANE Select	NP_001990.2:n.4346-2A>C