Canonical Allele Identifier: CA360747381

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128261798T>G , CM000667.2:g.128261798T>G	GRCh38
NC_000005.9:g.127597490T>G , CM000667.1:g.127597490T>G	GRCh37
NC_000005.8:g.127625389T>G	NCBI36
NG_008750.1:g.281246A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.8302A>C MANE Select	NP_001990.2:p.Asn2768His
ENST00000262464.9:c.8302A>C MANE Select	ENSP00000262464.4:p.Asn2768His
NM_001999.3:c.8302A>C	NP_001990.2:p.Asn2768His
ENST00000262464.8:c.8302A>C	ENSP00000262464.4:p.Asn2768His
ENST00000508053.5:c.8302A>C	ENSP00000424571.1:p.Asn2768His
ENST00000619499.4:c.8299A>C	ENSP00000482132.1:p.Asn2767His
XM_017009228.2:c.8149A>C	XP_016864717.1:p.Asn2717His