Canonical Allele Identifier: CA360759539
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 643797
ClinVar RCV Id: RCV000797580 RCV003236845
dbSNP Id: rs1297011367
gnomAD v2: 5-127673796-C-T
gnomAD v3: 5-128338104-C-T
gnomAD v4: 5-128338104-C-T
COSMIC: COSM292256 COSM292257
MyVariant Identifiers: chr5:g.127673796C>T (hg19) chr5:g.128338104C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128338104C>T , CM000667.2:g.128338104C>T GRCh38
NC_000005.9:g.127673796C>T , CM000667.1:g.127673796C>T GRCh37
NC_000005.8:g.127701695C>T NCBI36
NG_008750.1:g.204940G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.275G>A
ENST00000703785.1:n.356G>A
ENST00000262464.9:c.3491G>A MANE Select ENSP00000262464.4:p.Arg1164His
ENST00000262464.8:c.3491G>A ENSP00000262464.4:p.Arg1164His
ENST00000507835.5:c.41G>A ENSP00000426839.1:p.Arg14His
ENST00000508053.5:c.3491G>A ENSP00000424571.1:p.Arg1164His
ENST00000508989.5:c.3392G>A ENSP00000425596.1:p.Arg1131His
ENST00000619499.4:c.3488G>A ENSP00000482132.1:p.Arg1163His
NM_001999.3:c.3491G>A NP_001990.2:p.Arg1164His
XM_017009228.2:c.3338G>A XP_016864717.1:p.Arg1113His
NM_001999.4:c.3491G>A MANE Select NP_001990.2:p.Arg1164His
Search 100 bp 5'
Search 100 bp 3'