Canonical Allele Identifier: CA3844371
Gene: CD2AP HGNC NCBI

Linked Data

ClinVar Variation Id: 357175
ClinVar RCV Id: RCV000381117
dbSNP Id: rs200506346
ExAC: 6:47575648 T / A
gnomAD v2: 6-47575648-T-A
gnomAD v3: 6-47607912-T-A
gnomAD v4: 6-47607912-T-A
MyVariant Identifiers: chr6:g.47575648T>A (hg19) chr6:g.47575648_47575649delinsAA (hg19) chr6:g.47607912T>A (hg38) chr6:g.47607912_47607913delinsAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.47607912T>A , CM000668.2:g.47607912T>A GRCh38
NC_000006.11:g.47575648T>A , CM000668.1:g.47575648T>A GRCh37
NC_000006.10:g.47683607T>A NCBI36
NG_008878.1:g.135124T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000359314.5:c.1531-15T>A MANE Select ENSP00000352264.5:n.1531-15T>A
ENST00000486693.1:n.41T>A
NM_012120.2:c.1531-15T>A NP_036252.1:n.1531-15T>A
XM_005248976.1:c.1519-15T>A XP_005249033.1:n.1519-15T>A
XM_005248977.2:c.1531-15T>A XP_005249034.1:n.1531-15T>A
XM_011514449.1:c.1384-15T>A XP_011512751.1:n.1384-15T>A
XM_011514449.2:c.1384-15T>A XP_011512751.1:n.1384-15T>A
NM_012120.3:c.1531-15T>A MANE Select NP_036252.1:n.1531-15T>A
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