Canonical Allele Identifier: CA404900398

Gene: RFXANK NR2C2AP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.19201648G>A , CM000681.2:g.19201648G>A	GRCh38
NC_000019.9:g.19312457G>A , CM000681.1:g.19312457G>A	GRCh37
NC_000019.8:g.19173457G>A	NCBI36
NG_007432.1:g.14450G>A , LRG_102:g.14450G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003721.4:c.713-1G>A (RFXANK) MANE Select	NP_003712.1:n.713-1G>A
NM_176880.6:c.*277C>T (NR2C2AP) MANE Select	NP_795361.1:n.*277C>T
ENST00000303088.9:c.713-1G>A (RFXANK) MANE Select	ENSP00000305071.2:n.713-1G>A
ENST00000331552.12:c.*277C>T (NR2C2AP) MANE Select	ENSP00000332823.6:n.*277C>T
NM_001278727.1:c.647-1G>A (RFXANK)	NP_001265656.1:n.647-1G>A
NM_001278727.2:c.647-1G>A (RFXANK)	NP_001265656.1:n.647-1G>A
NM_001278728.1:c.644-1G>A (RFXANK)	NP_001265657.1:n.644-1G>A
NM_001278728.2:c.644-1G>A (RFXANK)	NP_001265657.1:n.644-1G>A
NM_001300945.1:c.415-85C>T (NR2C2AP)	NP_001287874.1:n.415-85C>T
NM_001300945.2:c.415-85C>T (NR2C2AP)	NP_001287874.1:n.415-85C>T
NM_001370233.1:c.713-1G>A (RFXANK)	NP_001357162.1:n.713-1G>A
NM_001370234.1:c.647-1G>A (RFXANK)	NP_001357163.1:n.647-1G>A
NM_001370235.1:c.710-1G>A (RFXANK)	NP_001357164.1:n.710-1G>A
NM_001370236.1:c.710-1G>A (RFXANK)	NP_001357165.1:n.710-1G>A
NM_001370237.1:c.785-1G>A (RFXANK)	NP_001357166.1:n.785-1G>A
NM_001370238.1:c.788-1G>A (RFXANK)	NP_001357167.1:n.788-1G>A
NM_003721.3:c.713-1G>A (RFXANK)	NP_003712.1:n.713-1G>A
NM_134440.2:c.644-1G>A (RFXANK)	NP_604389.1:n.644-1G>A
NM_134440.3:c.644-1G>A (RFXANK)	NP_604389.1:n.644-1G>A
NM_176880.5:c.*277C>T (NR2C2AP)	NP_795361.1:n.*277C>T
ENST00000303088.8:c.713-1G>A (RFXANK)	ENSP00000305071.2:n.713-1G>A
ENST00000331552.11:c.*277C>T (NR2C2AP)	ENSP00000332823.5:n.*277C>T
ENST00000392324.8:c.644-1G>A (RFXANK)	ENSP00000376138.3:n.644-1G>A
ENST00000407360.7:c.713-1G>A (RFXANK)	ENSP00000384572.3:n.713-1G>A
ENST00000420605.7:c.415-85C>T (NR2C2AP)	ENSP00000402756.1:n.415-85C>T
ENST00000456252.7:c.647-1G>A (RFXANK)	ENSP00000409138.2:n.647-1G>A
ENST00000536253.1:c.157-1G>A (RFXANK)	ENSP00000440321.2:n.157-1G>A
ENST00000537399.1:n.1343C>T (NR2C2AP)
ENST00000540977.1:n.169-1G>A (RFXANK)
ENST00000544883.5:c.*426C>T (NR2C2AP)	ENSP00000438092.1:n.*426C>T
ENST00000544923.5:c.82-9G>A (RFXANK)	ENSP00000441042.1:n.82-9G>A
XM_005260134.3:c.713-1G>A (RFXANK)	XP_005260191.1:n.713-1G>A
XM_005260134.5:c.713-1G>A (RFXANK)	XP_005260191.1:n.713-1G>A
XM_005260135.2:c.713-1G>A (RFXANK)	XP_005260192.1:n.713-1G>A
XM_005260135.3:c.713-1G>A (RFXANK)	XP_005260192.1:n.713-1G>A
XM_005260136.3:c.710-1G>A (RFXANK)	XP_005260193.1:n.710-1G>A
XM_005260136.5:c.710-1G>A (RFXANK)	XP_005260193.1:n.710-1G>A
XM_005260137.3:c.710-1G>A (RFXANK)	XP_005260194.1:n.710-1G>A
XM_005260137.4:c.710-1G>A (RFXANK)	XP_005260194.1:n.710-1G>A
XM_006722930.2:c.710-1G>A (RFXANK)	XP_006722993.1:n.710-1G>A
XM_006722930.4:c.710-1G>A (RFXANK)	XP_006722993.1:n.710-1G>A
XM_011527688.1:c.421-85C>T (NR2C2AP)	XP_011525990.1:n.421-85C>T
XM_011527688.3:c.421-85C>T (NR2C2AP)	XP_011525990.1:n.421-85C>T
XM_017027415.1:c.713-1G>A (RFXANK)	XP_016882904.1:n.713-1G>A
XM_017027416.1:c.647-1G>A (RFXANK)	XP_016882905.1:n.647-1G>A