Canonical Allele Identifier: CA360759300
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128338039G>C , CM000667.2:g.128338039G>C GRCh38
NC_000005.9:g.127673731G>C , CM000667.1:g.127673731G>C GRCh37
NC_000005.8:g.127701630G>C NCBI36
NG_008750.1:g.205005C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.340C>G
ENST00000703785.1:n.421C>G
ENST00000262464.9:c.3556C>G MANE Select ENSP00000262464.4:p.Pro1186Ala
ENST00000262464.8:c.3556C>G ENSP00000262464.4:p.Pro1186Ala
ENST00000507835.5:c.106C>G ENSP00000426839.1:p.Pro36Ala
ENST00000508053.5:c.3556C>G ENSP00000424571.1:p.Pro1186Ala
ENST00000508989.5:c.3457C>G ENSP00000425596.1:p.Pro1153Ala
ENST00000619499.4:c.3553C>G ENSP00000482132.1:p.Pro1185Ala
NM_001999.3:c.3556C>G NP_001990.2:p.Pro1186Ala
XM_017009228.2:c.3403C>G XP_016864717.1:p.Pro1135Ala
NM_001999.4:c.3556C>G MANE Select NP_001990.2:p.Pro1186Ala