Canonical Allele Identifier: CA650270088
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128261659A>G , CM000667.2:g.128261659A>G GRCh38
NC_000005.9:g.127597351A>G , CM000667.1:g.127597351A>G GRCh37
NC_000005.8:g.127625250A>G NCBI36
NG_008750.1:g.281385T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.8364+77T>C MANE Select ENSP00000262464.4:n.8364+77T>C
ENST00000262464.8:c.8364+77T>C ENSP00000262464.4:n.8364+77T>C
ENST00000508053.5:c.8364+77T>C ENSP00000424571.1:n.8364+77T>C
ENST00000619499.4:c.8361+77T>C ENSP00000482132.1:n.8361+77T>C
NM_001999.3:c.8364+77T>C NP_001990.2:n.8364+77T>C
XM_017009228.2:c.8211+77T>C XP_016864717.1:n.8211+77T>C
NM_001999.4:c.8364+77T>C MANE Select NP_001990.2:n.8364+77T>C