Canonical Allele Identifier: CA9322949

Gene: RFXANK NR2C2AP

Linked Data

• ClinVar Variation Id: 328648
• ClinVar RCV Id: RCV000525677
• dbSNP Id: rs1802498
• ExAC: 19:19312496 C / G
• gnomAD v2: 19-19312496-C-G
• gnomAD v3: 19-19201687-C-G
• gnomAD v4: 19-19201687-C-G
• MyVariant Identifiers: chr19:g.19312496C>G (hg19) ; chr19:g.19201687C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.19201687C>G , CM000681.2:g.19201687C>G	GRCh38
NC_000019.9:g.19312496C>G , CM000681.1:g.19312496C>G	GRCh37
NC_000019.8:g.19173496C>G	NCBI36
NG_007432.1:g.14489C>G , LRG_102:g.14489C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303088.9:c.751C>G (RFXANK) MANE Select	ENSP00000305071.2:p.Gln251Glu
ENST00000331552.12:c.*238G>C (NR2C2AP) MANE Select	ENSP00000332823.6:n.*238G>C
ENST00000303088.8:c.751C>G (RFXANK)	ENSP00000305071.2:p.Gln251Glu
ENST00000331552.11:c.*238G>C (NR2C2AP)	ENSP00000332823.5:n.*238G>C
ENST00000392324.8:c.682C>G (RFXANK)	ENSP00000376138.3:p.Gln228Glu
ENST00000407360.7:c.751C>G (RFXANK)	ENSP00000384572.3:p.Gln251Glu
ENST00000420605.7:c.415-124G>C (NR2C2AP)	ENSP00000402756.1:n.415-124G>C
ENST00000456252.7:c.685C>G (RFXANK)	ENSP00000409138.2:p.Gln229Glu
ENST00000536253.1:c.195C>G (RFXANK)	ENSP00000440321.2:n.195C>G
ENST00000537399.1:n.1304G>C (NR2C2AP)
ENST00000540977.1:n.207C>G (RFXANK)
ENST00000544883.5:c.*387G>C (NR2C2AP)	ENSP00000438092.1:n.*387G>C
ENST00000544923.5:c.112C>G (RFXANK)	ENSP00000441042.1:p.Gln38Glu
NM_001278727.1:c.685C>G (RFXANK)	NP_001265656.1:p.Gln229Glu
NM_001278728.1:c.682C>G (RFXANK)	NP_001265657.1:p.Gln228Glu
NM_001300945.1:c.415-124G>C (NR2C2AP)	NP_001287874.1:n.415-124G>C
NM_003721.3:c.751C>G (RFXANK)	NP_003712.1:p.Gln251Glu
NM_134440.2:c.682C>G (RFXANK)	NP_604389.1:p.Gln228Glu
NM_176880.5:c.*238G>C (NR2C2AP)	NP_795361.1:n.*238G>C
XM_005260134.3:c.751C>G (RFXANK)	XP_005260191.1:p.Gln251Glu
XM_005260135.2:c.751C>G (RFXANK)	XP_005260192.1:p.Gln251Glu
XM_005260136.3:c.748C>G (RFXANK)	XP_005260193.1:p.Gln250Glu
XM_005260137.3:c.748C>G (RFXANK)	XP_005260194.1:p.Gln250Glu
XM_006722930.2:c.748C>G (RFXANK)	XP_006722993.1:p.Gln250Glu
XM_011527688.1:c.421-124G>C (NR2C2AP)	XP_011525990.1:n.421-124G>C
XM_005260134.5:c.751C>G (RFXANK)	XP_005260191.1:p.Gln251Glu
XM_005260135.3:c.751C>G (RFXANK)	XP_005260192.1:p.Gln251Glu
XM_005260136.5:c.748C>G (RFXANK)	XP_005260193.1:p.Gln250Glu
XM_005260137.4:c.748C>G (RFXANK)	XP_005260194.1:p.Gln250Glu
XM_006722930.4:c.748C>G (RFXANK)	XP_006722993.1:p.Gln250Glu
XM_011527688.3:c.421-124G>C (NR2C2AP)	XP_011525990.1:n.421-124G>C
XM_017027415.1:c.751C>G (RFXANK)	XP_016882904.1:p.Gln251Glu
XM_017027416.1:c.685C>G (RFXANK)	XP_016882905.1:p.Gln229Glu
NM_003721.4:c.751C>G (RFXANK) MANE Select	NP_003712.1:p.Gln251Glu
NM_001300945.2:c.415-124G>C (NR2C2AP)	NP_001287874.1:n.415-124G>C
NM_001370233.1:c.751C>G (RFXANK)	NP_001357162.1:p.Gln251Glu
NM_001370234.1:c.685C>G (RFXANK)	NP_001357163.1:p.Gln229Glu
NM_001370235.1:c.748C>G (RFXANK)	NP_001357164.1:p.Gln250Glu
NM_001370236.1:c.748C>G (RFXANK)	NP_001357165.1:p.Gln250Glu
NM_001370237.1:c.823C>G (RFXANK)	NP_001357166.1:p.Gln275Glu
NM_001370238.1:c.826C>G (RFXANK)	NP_001357167.1:p.Gln276Glu
NM_176880.6:c.*238G>C (NR2C2AP) MANE Select	NP_795361.1:n.*238G>C
NM_001278727.2:c.685C>G (RFXANK)	NP_001265656.1:p.Gln229Glu
NM_001278728.2:c.682C>G (RFXANK)	NP_001265657.1:p.Gln228Glu
NM_134440.3:c.682C>G (RFXANK)	NP_604389.1:p.Gln228Glu