Canonical Allele Identifier: CA566371568
Gene: PPT2-EGFL8 HGNC NCBI

Linked Data

dbSNP Id: rs1339120973
gnomAD v2: 6-32132346-T-G
gnomAD v4: 6-32164569-T-G
MyVariant Identifiers: chr6:g.32132346T>G (hg19) chr6:g.32164569T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32164569T>G , CM000668.2:g.32164569T>G GRCh38
NC_000006.11:g.32132346T>G , CM000668.1:g.32132346T>G GRCh37
NC_000006.10:g.32240324T>G NCBI36
NG_042283.1:g.16118T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000421600.2:c.225-10T>G
ENST00000422437.5:c.766-10T>G ENSP00000457534.1:n.766-10T>G
ENST00000428388.6:c.766-10T>G ENSP00000455087.1:n.766-10T>G
ENST00000453656.6:n.897-10T>G
ENST00000479001.2:n.751-10T>G
ENST00000583227.5:c.*318-10T>G ENSP00000461909.1:n.*318-10T>G
ENST00000585246.5:c.*318-1569T>G ENSP00000463570.1:n.*318-1569T>G
NR_037861.1:n.1180-10T>G
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