Allele Registry

Canonical Allele Identifier: CA021836

Gene:

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr2:g.47402967G>C

GRCh37 chr2:g.47630106G>C

Linked Data - Sequence & Population

gnomAD v2:

2:47630106 G / C

gnomAD v3:

2:47402967 G / C

gnomAD v4:

chr2-47402967-G-C

Joint Max Group AF 0.00217146 (EAS)

Genomes Max Group AF 0.00133453 (EAS)

Exomes Max Group AF 0.00218116 (EAS)

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000165718

RCV000409105

RCV001567568

RCV002055083

ClinVar Variation:

90488

dbSNP:

138068023

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47402967G>C , CM000664.2:g.47402967G>C	GRCh38
NC_000002.11:g.47630106G>C , CM000664.1:g.47630106G>C	GRCh37
NC_000002.10:g.47483610G>C	NCBI36
NG_007110.2:g.4844G>C , LRG_218:g.4844G>C

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