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: CA45142473

Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs961420086

gnomAD v2: 2-31808890-A-G

gnomAD v3: 2-31583821-A-G

gnomAD v4: 2-31583821-A-G

MyVariant Identifiers: chr2:g.31808890A>G (hg19) chr2:g.31808890_31808891delinsGT (hg19) chr2:g.31583821A>G (hg38) chr2:g.31583821_31583822delinsGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31583821A>G , CM000664.2:g.31583821A>G	GRCh38
NC_000002.11:g.31808890A>G , CM000664.1:g.31808890A>G	GRCh37
NC_000002.10:g.31662394A>G	NCBI36
NG_008365.1:g.2151T>C

Transcript Alleles

HGVS	Amino-acid change
XM_011533070.1:c.27-50055T>C	XP_011531372.1:n.27-50055T>C
XM_011533071.1:c.27-50055T>C	XP_011531373.1:n.27-50055T>C
XM_011533072.1:c.27-50055T>C	XP_011531374.1:n.27-50055T>C
XM_011533072.2:c.27-50055T>C	XP_011531374.1:n.27-50055T>C

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