Canonical Allele Identifier: CA117701
Gene: CD2AP HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.47612492C>T
GRCh37 chr6:g.47580228C>T
gnomAD v2:
6:47580228 C / T
gnomAD v3:
6:47612492 C / T
gnomAD v4:
chr6-47612492-C-T
Joint Max Group AF 0.00002258 (AMR)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001782 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.47612492C>T , CM000668.2:g.47612492C>T GRCh38
NC_000006.11:g.47580228C>T , CM000668.1:g.47580228C>T GRCh37
NC_000006.10:g.47688187C>T NCBI36
NG_008878.1:g.139704C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000359314.5:c.1834C>T MANE Select ENSP00000352264.5:p.Arg612Ter
NM_012120.2:c.1834C>T NP_036252.1:p.Arg612Ter
XM_005248976.1:c.1822C>T XP_005249033.1:p.Arg608Ter
XM_005248977.2:c.1814+3188C>T XP_005249034.1:n.1814+3188C>T
XM_011514449.1:c.1687C>T XP_011512751.1:p.Arg563Ter
XM_011514449.2:c.1687C>T XP_011512751.1:p.Arg563Ter
NM_012120.3:c.1834C>T MANE Select NP_036252.1:p.Arg612Ter
Search 100 bp 5'
Search 100 bp 3'