Canonical Allele Identifier: CA12387690
Gene: CD2AP HGNC NCBI
dbSNP:
6936632
gnomAD v2:
6:47556033 G / A
gnomAD v3:
6:47588297 G / A
gnomAD v4:
chr6-47588297-G-A
Joint Max Group AF 0.11065548 (NFE)
Genomes Max Group AF 0.11065548 (NFE)
MyVariant.info:
GRCh38 chr6:g.47588297G>A
GRCh37 chr6:g.47556033G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.47588297G>A , CM000668.2:g.47588297G>A GRCh38
NC_000006.11:g.47556033G>A , CM000668.1:g.47556033G>A GRCh37
NC_000006.10:g.47663992G>A NCBI36
NG_008878.1:g.115509G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000359314.5:c.1108+6232G>A MANE Select ENSP00000352264.5:n.1108+6232G>A
NM_012120.2:c.1108+6232G>A NP_036252.1:n.1108+6232G>A
XM_005248976.1:c.1096+6232G>A XP_005249033.1:n.1096+6232G>A
XM_005248977.2:c.1108+6232G>A XP_005249034.1:n.1108+6232G>A
XM_011514449.1:c.961+6232G>A XP_011512751.1:n.961+6232G>A
XM_011514449.2:c.961+6232G>A XP_011512751.1:n.961+6232G>A
XM_017010641.1:c.1108+6232G>A XP_016866130.1:n.1108+6232G>A
NM_012120.3:c.1108+6232G>A MANE Select NP_036252.1:n.1108+6232G>A
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