Canonical Allele Identifier: CA826198014

Gene: EXOC2

Linked Data

• dbSNP Id: rs1163503719
• gnomAD v3: 6-577817-CTCAG-C
• gnomAD v4: 6-577817-CTCAG-C
• MyVariant Identifiers: chr6:g.577818_577821del (hg19) ; chr6:g.577818_577821del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.577819_577822del , CM000668.2:g.577819_577822del	GRCh38
NC_000006.11:g.577819_577822del , CM000668.1:g.577819_577822del	GRCh37
NC_000006.10:g.522819_522822del	NCBI36
NG_047166.1:g.120321_120324del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230449.9:c.1193-939_1193-936del MANE Select	ENSP00000230449.4:n.1193-939_1193-936del
ENST00000230449.8:c.1193-939_1193-936del	ENSP00000230449.4:n.1193-939_1193-936del
NM_018303.5:c.1193-939_1193-936del	NP_060773.3:n.1193-939_1193-936del
NR_073064.1:n.1521-939_1521-936del
XM_017011018.1:c.1193-939_1193-936del	XP_016866507.1:n.1193-939_1193-936del
XM_017011019.1:c.1193-939_1193-936del	XP_016866508.1:n.1193-939_1193-936del
XM_017011020.1:c.1193-939_1193-936del	XP_016866509.1:n.1193-939_1193-936del
XM_017011021.1:c.1193-939_1193-936del	XP_016866510.1:n.1193-939_1193-936del
XM_017011022.1:c.1193-939_1193-936del	XP_016866511.1:n.1193-939_1193-936del
XM_017011023.1:c.1193-939_1193-936del	XP_016866512.1:n.1193-939_1193-936del
XM_017011024.1:c.1193-939_1193-936del	XP_016866513.1:n.1193-939_1193-936del
XM_017011025.1:c.1193-939_1193-936del	XP_016866514.1:n.1193-939_1193-936del
XM_017011026.1:c.1193-939_1193-936del	XP_016866515.1:n.1193-939_1193-936del
NM_018303.6:c.1193-939_1193-936del MANE Select	NP_060773.3:n.1193-939_1193-936del
NR_073064.2:n.1519-939_1519-936del