Canonical Allele Identifier: CA3844389
Gene: CD2AP HGNC NCBI

Linked Data

ClinVar Variation Id: 2136401
ClinVar RCV Id: RCV003060041
dbSNP Id: rs762462951
ExAC: 6:47575744 G / T
gnomAD v2: 6-47575744-G-T
gnomAD v3: 6-47608008-G-T
gnomAD v4: 6-47608008-G-T
MyVariant Identifiers: chr6:g.47575744G>T (hg19) chr6:g.47608008G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.47608008G>T , CM000668.2:g.47608008G>T GRCh38
NC_000006.11:g.47575744G>T , CM000668.1:g.47575744G>T GRCh37
NC_000006.10:g.47683703G>T NCBI36
NG_008878.1:g.135220G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000359314.5:c.1612G>T MANE Select ENSP00000352264.5:p.Asp538Tyr
ENST00000486693.1:n.137G>T
NM_012120.2:c.1612G>T NP_036252.1:p.Asp538Tyr
XM_005248976.1:c.1600G>T XP_005249033.1:p.Asp534Tyr
XM_005248977.2:c.1612G>T XP_005249034.1:p.Asp538Tyr
XM_011514449.1:c.1465G>T XP_011512751.1:p.Asp489Tyr
XM_011514449.2:c.1465G>T XP_011512751.1:p.Asp489Tyr
NM_012120.3:c.1612G>T MANE Select NP_036252.1:p.Asp538Tyr
Search 100 bp 5'
Search 100 bp 3'