Canonical Allele Identifier: CA3027733

Gene: CISD2 SLC9B1

Linked Data

• ClinVar Variation Id: 516867
• ClinVar RCV Id: RCV000612084
• dbSNP Id: rs199992363
• ExAC: 4:103808515 T / C
• gnomAD v2: 4-103808515-T-C
• gnomAD v3: 4-102887358-T-C
• gnomAD v4: 4-102887358-T-C
• MyVariant Identifiers: chr4:g.103808515T>C (hg19) ; chr4:g.102887358T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102887358T>C , CM000666.2:g.102887358T>C	GRCh38
NC_000004.11:g.103808515T>C , CM000666.1:g.103808515T>C	GRCh37
NC_000004.10:g.104027951T>C	NCBI36
NG_008636.2:g.23381T>C
NG_008662.2:g.137382A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273986.10:c.336T>C (CISD2) MANE Select	ENSP00000273986.4:p.Gly112=
ENST00000643561.1:c.*318T>C (CISD2)	ENSP00000494068.1:n.*318T>C
ENST00000646632.1:c.*295T>C (CISD2)	ENSP00000494257.1:n.*295T>C
ENST00000273986.8:c.336T>C (CISD2)	ENSP00000273986.4:p.Gly112=
ENST00000394789.7:c.1333-2030A>G (SLC9B1)	ENSP00000378269.3:n.1333-2030A>G
ENST00000503584.5:c.*884-2069A>G (SLC9B1)	ENSP00000426926.1:n.*884-2069A>G
ENST00000503643.1:c.366T>C (CISD2)	ENSP00000423716.1:p.Gly122=
ENST00000514972.5:c.*602-2030A>G (SLC9B1)	ENSP00000426584.1:n.*602-2030A>G
ENST00000574446.1:c.*295T>C (CISD2)	ENSP00000458976.1:n.*295T>C
NM_001008388.4:c.336T>C (CISD2)	NP_001008389.1:p.Gly112=
NM_001100874.2:c.1333-2030A>G (SLC9B1)	NP_001094344.1:n.1333-2030A>G
NR_047513.1:n.1347-2030A>G (SLC9B1)
NR_047515.1:n.1248-2069A>G (SLC9B1)
NM_001008388.5:c.336T>C (CISD2) MANE Select	NP_001008389.1:p.Gly112=
NM_001100874.3:c.1333-2030A>G (SLC9B1)	NP_001094344.2:n.1333-2030A>G
NR_047513.2:n.1313-2030A>G (SLC9B1)
NR_047515.2:n.1214-2069A>G (SLC9B1)