Canonical Allele Identifier: CA3027691
Community Standard Title: NM_001008388.5(CISD2):c.104-9C>A
Gene: CISD2 HGNC NCBI
SLC9B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102885207C>A , CM000666.2:g.102885207C>A GRCh38
NC_000004.11:g.103806364C>A , CM000666.1:g.103806364C>A GRCh37
NC_000004.10:g.104025799C>A NCBI36
NG_008636.2:g.21230C>A
NG_008662.2:g.139533G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001008388.5:c.104-9C>A (CISD2) MANE Select NP_001008389.1:n.104-9C>A
ENST00000273986.10:c.104-9C>A (CISD2) MANE Select ENSP00000273986.4:n.104-9C>A
NM_001008388.4:c.104-9C>A (CISD2) NP_001008389.1:n.104-9C>A
NM_001100874.2:c.*26G>T (SLC9B1) NP_001094344.1:n.*26G>T
NM_001100874.3:c.*26G>T (SLC9B1) NP_001094344.2:n.*26G>T
NR_047513.1:n.1468G>T (SLC9B1)
NR_047513.2:n.1434G>T (SLC9B1)
NR_047515.1:n.1330G>T (SLC9B1)
NR_047515.2:n.1296G>T (SLC9B1)
ENST00000273986.8:c.104-9C>A (CISD2) ENSP00000273986.4:n.104-9C>A
ENST00000394789.7:c.*26G>T (SLC9B1) ENSP00000378269.3:n.*26G>T
ENST00000503584.5:c.*966G>T (SLC9B1) ENSP00000426926.1:n.*966G>T
ENST00000503643.1:c.134-9C>A (CISD2) ENSP00000423716.1:n.134-9C>A
ENST00000514972.5:c.*723G>T (SLC9B1) ENSP00000426584.1:n.*723G>T
ENST00000574446.1:c.*63-9C>A (CISD2) ENSP00000458976.1:n.*63-9C>A
ENST00000643561.1:c.*86-9C>A (CISD2) ENSP00000494068.1:n.*86-9C>A
ENST00000646632.1:c.*63-9C>A (CISD2) ENSP00000494257.1:n.*63-9C>A