Canonical Allele Identifier: CA102700988

Gene: CISD2 SLC9B1

Linked Data

• ClinVar Variation Id: 508006
• ClinVar RCV Id: RCV000613284 ; RCV001402699 ; RCV002498907
• dbSNP Id: rs933913005
• gnomAD v2: 4-103808478-T-C
• gnomAD v3: 4-102887321-T-C
• gnomAD v4: 4-102887321-T-C
• MyVariant Identifiers: chr4:g.103808478T>C (hg19) ; chr4:g.102887321T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102887321T>C , CM000666.2:g.102887321T>C	GRCh38
NC_000004.11:g.103808478T>C , CM000666.1:g.103808478T>C	GRCh37
NC_000004.10:g.104027914T>C	NCBI36
NG_008636.2:g.23344T>C
NG_008662.2:g.137419A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273986.10:c.319-20T>C (CISD2) MANE Select	ENSP00000273986.4:n.319-20T>C
ENST00000643561.1:c.*301-20T>C (CISD2)	ENSP00000494068.1:n.*301-20T>C
ENST00000646632.1:c.*278-20T>C (CISD2)	ENSP00000494257.1:n.*278-20T>C
ENST00000273986.8:c.319-20T>C (CISD2)	ENSP00000273986.4:n.319-20T>C
ENST00000394789.7:c.1333-1993A>G (SLC9B1)	ENSP00000378269.3:n.1333-1993A>G
ENST00000503584.5:c.*884-2032A>G (SLC9B1)	ENSP00000426926.1:n.*884-2032A>G
ENST00000503643.1:c.349-20T>C (CISD2)	ENSP00000423716.1:n.349-20T>C
ENST00000514972.5:c.*602-1993A>G (SLC9B1)	ENSP00000426584.1:n.*602-1993A>G
ENST00000574446.1:c.*278-20T>C (CISD2)	ENSP00000458976.1:n.*278-20T>C
NM_001008388.4:c.319-20T>C (CISD2)	NP_001008389.1:n.319-20T>C
NM_001100874.2:c.1333-1993A>G (SLC9B1)	NP_001094344.1:n.1333-1993A>G
NR_047513.1:n.1347-1993A>G (SLC9B1)
NR_047515.1:n.1248-2032A>G (SLC9B1)
NM_001008388.5:c.319-20T>C (CISD2) MANE Select	NP_001008389.1:n.319-20T>C
NM_001100874.3:c.1333-1993A>G (SLC9B1)	NP_001094344.2:n.1333-1993A>G
NR_047513.2:n.1313-1993A>G (SLC9B1)
NR_047515.2:n.1214-2032A>G (SLC9B1)