Canonical Allele Identifier: CA360767498
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128357375T>A , CM000667.2:g.128357375T>A GRCh38
NC_000005.9:g.127693067T>A , CM000667.1:g.127693067T>A GRCh37
NC_000005.8:g.127720966T>A NCBI36
NG_008750.1:g.185669A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.2575A>T MANE Select ENSP00000262464.4:p.Asn859Tyr
ENST00000262464.8:c.2575A>T ENSP00000262464.4:p.Asn859Tyr
ENST00000508053.5:c.2575A>T ENSP00000424571.1:p.Asn859Tyr
ENST00000508989.5:c.2476A>T ENSP00000425596.1:p.Asn826Tyr
ENST00000619499.4:c.2572A>T ENSP00000482132.1:p.Asn858Tyr
NM_001999.3:c.2575A>T NP_001990.2:p.Asn859Tyr
XM_017009228.2:c.2422A>T XP_016864717.1:p.Asn808Tyr
NM_001999.4:c.2575A>T MANE Select NP_001990.2:p.Asn859Tyr