Canonical Allele Identifier: CA3394614
Gene: FBN2 HGNC NCBI

Linked Data

dbSNP Id: rs759133679

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128305040C>G , CM000667.2:g.128305040C>G GRCh38
NC_000005.9:g.127640732C>G , CM000667.1:g.127640732C>G GRCh37
NC_000005.8:g.127668631C>G NCBI36
NG_008750.1:g.238004G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2501G>C
ENST00000703785.1:n.2420G>C
ENST00000262464.9:c.5717G>C MANE Select ENSP00000262464.4:p.Gly1906Ala
ENST00000262464.8:c.5717G>C ENSP00000262464.4:p.Gly1906Ala
ENST00000508053.5:c.5717G>C ENSP00000424571.1:p.Gly1906Ala
ENST00000619499.4:c.5714G>C ENSP00000482132.1:p.Gly1905Ala
NM_001999.3:c.5717G>C NP_001990.2:p.Gly1906Ala
XM_017009228.2:c.5564G>C XP_016864717.1:p.Gly1855Ala
NM_001999.4:c.5717G>C MANE Select NP_001990.2:p.Gly1906Ala