Canonical Allele Identifier: CA387045272

Gene: RSRC2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.122517404C>G , CM000674.2:g.122517404C>G	GRCh38
NC_000012.11:g.123001951C>G , CM000674.1:g.123001951C>G	GRCh37
NC_000012.10:g.121567904C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_023012.6:c.425G>C MANE Select	NP_075388.2:p.Arg142Pro
ENST00000331738.12:c.425G>C MANE Select	ENSP00000330188.6:p.Arg142Pro
NM_023012.5:c.425G>C	NP_075388.2:p.Arg142Pro
NR_036434.1:n.663G>C
NR_036434.2:n.586G>C
NR_036435.1:n.685G>C
NR_036435.2:n.608G>C
NR_036436.1:n.607G>C
NR_036436.2:n.530G>C
ENST00000331738.11:c.425G>C	ENSP00000330188.6:p.Arg142Pro
ENST00000344591.8:c.248G>C	ENSP00000343315.4:p.Arg83Pro
ENST00000433877.6:c.*294G>C	ENSP00000412148.2:n.*294G>C
ENST00000525335.6:n.551G>C
ENST00000526560.6:c.106G>C	ENSP00000446470.1:p.Gly36Arg
ENST00000527173.6:n.1466G>C
ENST00000527399.3:c.*294G>C	ENSP00000432725.2:n.*294G>C
ENST00000527796.6:n.2914G>C
ENST00000528263.1:c.217G>C
ENST00000532695.5:c.*272G>C	ENSP00000436515.1:n.*272G>C
XM_005253601.1:c.425G>C	XP_005253658.1:p.Arg142Pro
XM_005253601.2:c.425G>C	XP_005253658.1:p.Arg142Pro
XM_005253602.2:c.281G>C	XP_005253659.1:p.Arg94Pro
XM_005253604.1:c.248G>C	XP_005253661.1:p.Arg83Pro
XM_005253604.2:c.248G>C	XP_005253661.1:p.Arg83Pro
XM_011538688.1:c.425G>C	XP_011536990.1:p.Arg142Pro
XM_011538688.2:c.425G>C	XP_011536990.1:p.Arg142Pro
XM_011538689.1:c.248G>C	XP_011536991.1:p.Arg83Pro
XM_017019830.2:c.425G>C	XP_016875319.1:p.Arg142Pro
XM_017019831.1:c.281G>C	XP_016875320.1:p.Arg94Pro
XM_017019832.1:c.-272G>C	XP_016875321.1:n.-272G>C
XM_017019833.2:c.-272G>C	XP_016875322.1:n.-272G>C
XR_001748844.2:n.571G>C
XR_001748845.2:n.571G>C
XR_001748846.2:n.571G>C
XR_001748847.2:n.571G>C
XR_001748848.2:n.571G>C
XR_002957370.1:n.571G>C
XR_242958.1:n.585G>C
XR_242959.1:n.585G>C
XR_944681.1:n.585G>C