Canonical Allele Identifier: CA2580616341

Gene: NFATC2

Linked Data

• ClinVar Variation Id: 2443845
• ClinVar RCV Id: RCV003152453

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.51435198_51435201del , CM000682.2:g.51435198_51435201del	GRCh38
NC_000020.10:g.50051735_50051738del , CM000682.1:g.50051735_50051738del	GRCh37
NC_000020.9:g.49485142_49485145del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371564.8:c.2023_2026del MANE Select	ENSP00000360619.3:p.Tyr675ThrfsTer18
ENST00000371564.7:c.2023_2026del	ENSP00000360619.3:p.Tyr675ThrfsTer18
ENST00000396009.7:c.2023_2026del	ENSP00000379330.3:p.Tyr675ThrfsTer18
ENST00000414705.5:c.1963_1966del	ENSP00000396471.1:p.Tyr655ThrfsTer18
ENST00000609507.1:c.1366_1369del	ENSP00000477342.1:p.Tyr456ThrfsTer18
ENST00000609943.5:c.1963_1966del	ENSP00000477370.1:p.Tyr655ThrfsTer18
ENST00000610033.5:c.1366_1369del	ENSP00000477142.1:p.Tyr456ThrfsTer18
NM_001136021.2:c.1963_1966del	NP_001129493.1:p.Tyr655ThrfsTer18
NM_001258292.1:c.1963_1966del	NP_001245221.1:p.Tyr655ThrfsTer18
NM_001258294.1:c.1366_1369del	NP_001245223.1:p.Tyr456ThrfsTer18
NM_001258295.1:c.1366_1369del	NP_001245224.1:p.Tyr456ThrfsTer18
NM_001258296.1:c.1366_1369del	NP_001245225.1:p.Tyr456ThrfsTer18
NM_001258297.1:c.1366_1369del	NP_001245226.1:p.Tyr456ThrfsTer18
NM_012340.4:c.2023_2026del	NP_036472.2:p.Tyr675ThrfsTer18
NM_173091.3:c.2023_2026del	NP_775114.1:p.Tyr675ThrfsTer18
XM_011528824.1:c.2023_2026del	XP_011527126.1:p.Tyr675ThrfsTer18
XM_011528825.1:c.1963_1966del	XP_011527127.1:p.Tyr655ThrfsTer18
XM_011528826.1:c.1366_1369del	XP_011527128.1:p.Tyr456ThrfsTer18
XM_011528824.2:c.2023_2026del	XP_011527126.1:p.Tyr675ThrfsTer18
XM_011528825.2:c.1963_1966del	XP_011527127.1:p.Tyr655ThrfsTer18
XM_011528826.2:c.1366_1369del	XP_011527128.1:p.Tyr456ThrfsTer18
XM_017027850.1:c.1366_1369del	XP_016883339.1:p.Tyr456ThrfsTer18
XM_017027851.1:c.2023_2026del	XP_016883340.1:p.Tyr675ThrfsTer?
NM_012340.5:c.2023_2026del MANE Select	NP_036472.2:p.Tyr675ThrfsTer18
NM_001136021.3:c.1963_1966del	NP_001129493.1:p.Tyr655ThrfsTer18
NM_001258292.2:c.1963_1966del	NP_001245221.1:p.Tyr655ThrfsTer18
NM_001258294.2:c.1366_1369del	NP_001245223.1:p.Tyr456ThrfsTer18
NM_001258295.2:c.1366_1369del	NP_001245224.1:p.Tyr456ThrfsTer18
NM_001258296.2:c.1366_1369del	NP_001245225.1:p.Tyr456ThrfsTer18
NM_001258297.2:c.1366_1369del	NP_001245226.1:p.Tyr456ThrfsTer18
NM_173091.4:c.2023_2026del	NP_775114.1:p.Tyr675ThrfsTer18