Allele Registry

Canonical Allele Identifier: CA15423459

Gene: CD2AP HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr6:g.47485642G>C

GRCh37 chr6:g.47453378G>C

Linked Data - Sequence & Population

gnomAD v2:

6:47453378 G / C

gnomAD v3:

6:47485642 G / C

gnomAD v4:

chr6-47485642-G-C

Joint Max Group AF 0.26750506 (NFE)

Genomes Max Group AF 0.26750506 (NFE)

Linked Data - NCBI & NCI

dbSNP:

9349407

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.47485642G>C , CM000668.2:g.47485642G>C	GRCh38
NC_000006.11:g.47453378G>C , CM000668.1:g.47453378G>C	GRCh37
NC_000006.10:g.47561337G>C	NCBI36
NG_008878.1:g.12854G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359314.5:c.4+7394G>C MANE Select	ENSP00000352264.5:n.4+7394G>C
NM_012120.2:c.4+7394G>C	NP_036252.1:n.4+7394G>C
XM_005248976.1:c.4+7394G>C	XP_005249033.1:n.4+7394G>C
XM_005248977.2:c.4+7394G>C	XP_005249034.1:n.4+7394G>C
XM_017010641.1:c.4+7394G>C	XP_016866130.1:n.4+7394G>C
NM_012120.3:c.4+7394G>C MANE Select	NP_036252.1:n.4+7394G>C

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