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.

Canonical Allele Identifier: CA717991905

Gene: RMI2 HGNC NCBI

Linked Data

dbSNP Id: rs1331273774

MyVariant Identifiers: chr16:g.11375337T>A (hg19) chr16:g.11281480T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.11281480T>A , CM000678.2:g.11281480T>A	GRCh38
NC_000016.9:g.11375337T>A , CM000678.1:g.11375337T>A	GRCh37
NC_000016.8:g.11282838T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000649869.1:n.152+31702T>A
ENST00000572173.1:c.-515-13736T>A	ENSP00000461206.1:n.-515-13736T>A
ENST00000573910.1:n.160+31702T>A
XR_933070.1:n.733+31702T>A
XR_933070.3:n.876+31702T>A

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