Canonical Allele Identifier: CA360753781
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127666264C>G (hg19) chr5:g.128330572C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128330572C>G , CM000667.2:g.128330572C>G GRCh38
NC_000005.9:g.127666264C>G , CM000667.1:g.127666264C>G GRCh37
NC_000005.8:g.127694163C>G NCBI36
NG_008750.1:g.212472G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.1129+1G>C
ENST00000703785.1:n.1210+1G>C
ENST00000262464.9:c.4345+1G>C MANE Select ENSP00000262464.4:n.4345+1G>C
ENST00000262464.8:c.4345+1G>C ENSP00000262464.4:n.4345+1G>C
ENST00000507835.5:c.895+1G>C ENSP00000426839.1:n.895+1G>C
ENST00000508053.5:c.4345+1G>C ENSP00000424571.1:n.4345+1G>C
ENST00000508989.5:c.4246+1G>C ENSP00000425596.1:n.4246+1G>C
ENST00000619499.4:c.4342+1G>C ENSP00000482132.1:n.4342+1G>C
NM_001999.3:c.4345+1G>C NP_001990.2:n.4345+1G>C
XM_017009228.2:c.4192+1G>C XP_016864717.1:n.4192+1G>C
NM_001999.4:c.4345+1G>C MANE Select NP_001990.2:n.4345+1G>C
Search 100 bp 5'
Search 100 bp 3'