Canonical Allele Identifier: CA3737152

Gene: PPT2-EGFL8

Linked Data

• dbSNP Id: rs770415245
• ExAC: 6:32132356 C / T
• gnomAD v2: 6-32132356-C-T
• gnomAD v3: 6-32164579-C-T
• gnomAD v4: 6-32164579-C-T
• MyVariant Identifiers: chr6:g.32132356C>T (hg19) ; chr6:g.32164579C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164579C>T , CM000668.2:g.32164579C>T	GRCh38
NC_000006.11:g.32132356C>T , CM000668.1:g.32132356C>T	GRCh37
NC_000006.10:g.32240334C>T	NCBI36
NG_042283.1:g.16128C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421600.2:c.225C>T
ENST00000422437.5:c.766C>T	ENSP00000457534.1:p.Pro256Ser
ENST00000428388.6:c.766C>T	ENSP00000455087.1:p.Pro256Ser
ENST00000453656.6:n.897C>T
ENST00000479001.2:n.751C>T
ENST00000583227.5:c.*318C>T	ENSP00000461909.1:n.*318C>T
ENST00000585246.5:c.*318-1559C>T	ENSP00000463570.1:n.*318-1559C>T
NR_037861.1:n.1180C>T