Canonical Allele Identifier: CA360759538
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128338104C>G , CM000667.2:g.128338104C>G GRCh38
NC_000005.9:g.127673796C>G , CM000667.1:g.127673796C>G GRCh37
NC_000005.8:g.127701695C>G NCBI36
NG_008750.1:g.204940G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.275G>C
ENST00000703785.1:n.356G>C
ENST00000262464.9:c.3491G>C MANE Select ENSP00000262464.4:p.Arg1164Pro
ENST00000262464.8:c.3491G>C ENSP00000262464.4:p.Arg1164Pro
ENST00000507835.5:c.41G>C ENSP00000426839.1:p.Arg14Pro
ENST00000508053.5:c.3491G>C ENSP00000424571.1:p.Arg1164Pro
ENST00000508989.5:c.3392G>C ENSP00000425596.1:p.Arg1131Pro
ENST00000619499.4:c.3488G>C ENSP00000482132.1:p.Arg1163Pro
NM_001999.3:c.3491G>C NP_001990.2:p.Arg1164Pro
XM_017009228.2:c.3338G>C XP_016864717.1:p.Arg1113Pro
NM_001999.4:c.3491G>C MANE Select NP_001990.2:p.Arg1164Pro