Canonical Allele Identifier: CA078000

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128377744T>C , CM000667.2:g.128377744T>C	GRCh38
NC_000005.9:g.127713437T>C , CM000667.1:g.127713437T>C	GRCh37
NC_000005.8:g.127741336T>C	NCBI36
NG_008750.1:g.165299A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.1849+8A>G MANE Select	ENSP00000262464.4:n.1849+8A>G
ENST00000262464.8:c.1849+8A>G	ENSP00000262464.4:n.1849+8A>G
ENST00000508053.5:c.1849+8A>G	ENSP00000424571.1:n.1849+8A>G
ENST00000508989.5:c.1750+8A>G	ENSP00000425596.1:n.1750+8A>G
ENST00000511489.1:n.70+8A>G
ENST00000619499.4:c.1846+8A>G	ENSP00000482132.1:n.1846+8A>G
NM_001999.3:c.1849+8A>G	NP_001990.2:n.1849+8A>G
XM_017009228.2:c.1696+8A>G	XP_016864717.1:n.1696+8A>G
NM_001999.4:c.1849+8A>G MANE Select	NP_001990.2:n.1849+8A>G