Canonical Allele Identifier: CA3395163
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 429331
ClinVar RCV Id: RCV000492884 RCV002350099
dbSNP Id: rs754701797
ExAC: 5:127671683 T / C
gnomAD v2: 5-127671683-T-C
gnomAD v4: 5-128335991-T-C
MyVariant Identifiers: chr5:g.127671683T>C (hg19) chr5:g.128335991T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335991T>C , CM000667.2:g.128335991T>C GRCh38
NC_000005.9:g.127671683T>C , CM000667.1:g.127671683T>C GRCh37
NC_000005.8:g.127699582T>C NCBI36
NG_008750.1:g.207053A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.505A>G
ENST00000703785.1:n.586A>G
ENST00000262464.9:c.3721A>G MANE Select ENSP00000262464.4:p.Thr1241Ala
ENST00000262464.8:c.3721A>G ENSP00000262464.4:p.Thr1241Ala
ENST00000507835.5:c.271A>G ENSP00000426839.1:p.Thr91Ala
ENST00000508053.5:c.3721A>G ENSP00000424571.1:p.Thr1241Ala
ENST00000508989.5:c.3622A>G ENSP00000425596.1:p.Thr1208Ala
ENST00000619499.4:c.3718A>G ENSP00000482132.1:p.Thr1240Ala
NM_001999.3:c.3721A>G NP_001990.2:p.Thr1241Ala
XM_017009228.2:c.3568A>G XP_016864717.1:p.Thr1190Ala
NM_001999.4:c.3721A>G MANE Select NP_001990.2:p.Thr1241Ala
Search 100 bp 5'
Search 100 bp 3'