Canonical Allele Identifier: CA360766440
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127636573A>C (hg19) chr5:g.128300881A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128300881A>C , CM000667.2:g.128300881A>C GRCh38
NC_000005.9:g.127636573A>C , CM000667.1:g.127636573A>C GRCh37
NC_000005.8:g.127664472A>C NCBI36
NG_008750.1:g.242163T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2886T>G
ENST00000703785.1:n.2805T>G
ENST00000262464.9:c.6102T>G MANE Select ENSP00000262464.4:p.Asn2034Lys
ENST00000262464.8:c.6102T>G ENSP00000262464.4:p.Asn2034Lys
ENST00000508053.5:c.6102T>G ENSP00000424571.1:p.Asn2034Lys
ENST00000619499.4:c.6099T>G ENSP00000482132.1:p.Asn2033Lys
NM_001999.3:c.6102T>G NP_001990.2:p.Asn2034Lys
XM_017009228.2:c.5949T>G XP_016864717.1:p.Asn1983Lys
NM_001999.4:c.6102T>G MANE Select NP_001990.2:p.Asn2034Lys
Search 100 bp 5'
Search 100 bp 3'