Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

ClinGen Allele Registry

Canonical Allele Identifier: CA360739747

Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1720520

ClinVar RCV Id: RCV002298248

MyVariant Identifiers: chr5:g.127640660G>T (hg19) chr5:g.128304968G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128304968G>T , CM000667.2:g.128304968G>T	GRCh38
NC_000005.9:g.127640660G>T , CM000667.1:g.127640660G>T	GRCh37
NC_000005.8:g.127668559G>T	NCBI36
NG_008750.1:g.238076C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.2573C>A
ENST00000703785.1:n.2492C>A
ENST00000262464.9:c.5789C>A MANE Select	ENSP00000262464.4:p.Thr1930Asn
ENST00000262464.8:c.5789C>A	ENSP00000262464.4:p.Thr1930Asn
ENST00000508053.5:c.5789C>A	ENSP00000424571.1:p.Thr1930Asn
ENST00000619499.4:c.5786C>A	ENSP00000482132.1:p.Thr1929Asn
NM_001999.3:c.5789C>A	NP_001990.2:p.Thr1930Asn
XM_017009228.2:c.5636C>A	XP_016864717.1:p.Thr1879Asn
NM_001999.4:c.5789C>A MANE Select	NP_001990.2:p.Thr1930Asn