Canonical Allele Identifier: CA360754153
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128330665T>A , CM000667.2:g.128330665T>A GRCh38
NC_000005.9:g.127666357T>A , CM000667.1:g.127666357T>A GRCh37
NC_000005.8:g.127694256T>A NCBI36
NG_008750.1:g.212379A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.1037A>T
ENST00000703785.1:n.1118A>T
ENST00000262464.9:c.4253A>T MANE Select ENSP00000262464.4:p.Gln1418Leu
ENST00000262464.8:c.4253A>T ENSP00000262464.4:p.Gln1418Leu
ENST00000507835.5:c.803A>T ENSP00000426839.1:p.Gln268Leu
ENST00000508053.5:c.4253A>T ENSP00000424571.1:p.Gln1418Leu
ENST00000508989.5:c.4154A>T ENSP00000425596.1:p.Gln1385Leu
ENST00000619499.4:c.4250A>T ENSP00000482132.1:p.Gln1417Leu
NM_001999.3:c.4253A>T NP_001990.2:p.Gln1418Leu
XM_017009228.2:c.4100A>T XP_016864717.1:p.Gln1367Leu
NM_001999.4:c.4253A>T MANE Select NP_001990.2:p.Gln1418Leu