Canonical Allele Identifier: CA1619449838

Gene: PPT2-EGFL8

Linked Data

• dbSNP Id: rs1784340729

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164202G>C , CM000668.2:g.32164202G>C	GRCh38
NC_000006.11:g.32131979G>C , CM000668.1:g.32131979G>C	GRCh37
NC_000006.10:g.32239957G>C	NCBI36
NG_042283.1:g.15751G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421600.2:c.225-377G>C
ENST00000422437.5:c.766-377G>C	ENSP00000457534.1:n.766-377G>C
ENST00000428388.6:c.766-377G>C	ENSP00000455087.1:n.766-377G>C
ENST00000453656.6:n.897-377G>C
ENST00000479001.2:n.751-377G>C
ENST00000583227.5:c.*318-377G>C	ENSP00000461909.1:n.*318-377G>C
ENST00000585246.5:c.*317+1580G>C	ENSP00000463570.1:n.*317+1580G>C
NR_037861.1:n.1180-377G>C