Canonical Allele Identifier: CA410644949

Gene: ESS2 TSSK2

Linked Data

• dbSNP Id: rs1479049277
• gnomAD v2: 22-19119888-G-C
• gnomAD v4: 22-19132375-G-C
• MyVariant Identifiers: chr22:g.19119888G>C (hg19) ; chr22:g.19132375G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19132375G>C , CM000684.2:g.19132375G>C	GRCh38
NC_000022.10:g.19119888G>C , CM000684.1:g.19119888G>C	GRCh37
NC_000022.9:g.17499888G>C	NCBI36
NG_008320.1:g.17303C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*1821C>G (ESS2) MANE Select	ENSP00000252137.6:n.*1821C>G
ENST00000399635.4:c.976G>C (TSSK2) MANE Select	ENSP00000382544.2:p.Val326Leu
ENST00000252137.10:c.*1821C>G (ESS2)	ENSP00000252137.6:n.*1821C>G
ENST00000399635.3:c.976G>C (TSSK2)	ENSP00000382544.2:p.Val326Leu
NM_022719.2:c.*1821C>G (ESS2)	NP_073210.1:n.*1821C>G
NM_053006.4:c.976G>C (TSSK2)	NP_443732.3:p.Val326Leu
XM_005261282.3:c.*1821C>G (ESS2)	XP_005261339.1:n.*1821C>G
XM_006724329.2:c.*1821C>G (ESS2)	XP_006724392.1:n.*1821C>G
XM_006724330.2:c.*1821C>G (ESS2)	XP_006724393.1:n.*1821C>G
XM_006724331.2:c.*1821C>G (ESS2)	XP_006724394.1:n.*1821C>G
XR_937926.1:n.3210C>G (ESS2)
NR_134304.1:n.3366C>G (ESS2)
NM_022719.3:c.*1821C>G (ESS2) MANE Select	NP_073210.1:n.*1821C>G
NM_053006.5:c.976G>C (TSSK2) MANE Select	NP_443732.3:p.Val326Leu
NR_134304.2:n.3340C>G (ESS2)