Canonical Allele Identifier: CA3844426
Gene: CD2AP HGNC NCBI

Linked Data

ClinVar Variation Id: 357178
ClinVar RCV Id: RCV000311582
dbSNP Id: rs200024855
ExAC: 6:47576877 A / G
gnomAD v2: 6-47576877-A-G
gnomAD v3: 6-47609141-A-G
gnomAD v4: 6-47609141-A-G
MyVariant Identifiers: chr6:g.47576877A>G (hg19) chr6:g.47609141A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.47609141A>G , CM000668.2:g.47609141A>G GRCh38
NC_000006.11:g.47576877A>G , CM000668.1:g.47576877A>G GRCh37
NC_000006.10:g.47684836A>G NCBI36
NG_008878.1:g.136353A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000359314.5:c.1651A>G MANE Select ENSP00000352264.5:p.Thr551Ala
ENST00000486693.1:n.176A>G
NM_012120.2:c.1651A>G NP_036252.1:p.Thr551Ala
XM_005248976.1:c.1639A>G XP_005249033.1:p.Thr547Ala
XM_005248977.2:c.1651A>G XP_005249034.1:p.Thr551Ala
XM_011514449.1:c.1504A>G XP_011512751.1:p.Thr502Ala
XM_011514449.2:c.1504A>G XP_011512751.1:p.Thr502Ala
NM_012120.3:c.1651A>G MANE Select NP_036252.1:p.Thr551Ala
Search 100 bp 5'
Search 100 bp 3'