Canonical Allele Identifier: CA446310169
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127671238G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335546G>C , CM000667.2:g.128335546G>C GRCh38
NC_000005.9:g.127671238G>C , CM000667.1:g.127671238G>C GRCh37
NC_000005.8:g.127699137G>C NCBI36
NG_008750.1:g.207498C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.540C>G
ENST00000703785.1:n.621C>G
ENST00000262464.9:c.3756C>G MANE Select ENSP00000262464.4:p.Gly1252=
ENST00000262464.8:c.3756C>G ENSP00000262464.4:p.Gly1252=
ENST00000507835.5:c.306C>G ENSP00000426839.1:p.Gly102=
ENST00000508053.5:c.3756C>G ENSP00000424571.1:p.Gly1252=
ENST00000508989.5:c.3657C>G ENSP00000425596.1:p.Gly1219=
ENST00000619499.4:c.3753C>G ENSP00000482132.1:p.Gly1251=
NM_001999.3:c.3756C>G NP_001990.2:p.Gly1252=
XM_017009228.2:c.3603C>G XP_016864717.1:p.Gly1201=
NM_001999.4:c.3756C>G MANE Select NP_001990.2:p.Gly1252=