Canonical Allele Identifier: CA10198910

Gene: RFPL2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32191125C>G , CM000684.2:g.32191125C>G	GRCh38
NC_000022.10:g.32587112C>G , CM000684.1:g.32587112C>G	GRCh37
NC_000022.9:g.30917112C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001394555.1:c.784G>C MANE Select	NP_001381484.1:p.Val262Leu
ENST00000652607.2:c.784G>C MANE Select	ENSP00000498332.1:p.Val262Leu
NM_001098527.2:c.784G>C	NP_001091997.2:p.Val262Leu
NM_001098527.3:c.784G>C	NP_001091997.2:p.Val262Leu
NM_001159545.1:c.514G>C	NP_001153017.1:p.Val172Leu
NM_001159545.2:c.514G>C	NP_001153017.1:p.Val172Leu
NM_001159545.3:c.514G>C	NP_001153017.1:p.Val172Leu
NM_001159546.1:c.514G>C	NP_001153018.1:p.Val172Leu
NM_001159546.2:c.514G>C	NP_001153018.1:p.Val172Leu
NM_001159546.3:c.514G>C	NP_001153018.1:p.Val172Leu
NM_001364982.1:c.580G>C	NP_001351911.1:p.Val194Leu
NM_001364982.2:c.580G>C	NP_001351911.1:p.Val194Leu
NM_001364983.1:c.898G>C	NP_001351912.1:p.Val300Leu
NM_001364983.2:c.898G>C	NP_001351912.1:p.Val300Leu
NM_001364983.3:c.898G>C	NP_001351912.1:p.Val300Leu
NM_001364984.1:c.514G>C	NP_001351913.1:p.Val172Leu
NM_001364984.2:c.514G>C	NP_001351913.1:p.Val172Leu
NM_001364984.3:c.514G>C	NP_001351913.1:p.Val172Leu
NM_001364985.1:c.514G>C	NP_001351914.1:p.Val172Leu
NM_001364985.2:c.514G>C	NP_001351914.1:p.Val172Leu
NM_001364985.3:c.514G>C	NP_001351914.1:p.Val172Leu
NM_001364986.1:c.898G>C	NP_001351915.1:p.Val300Leu
NM_001364986.2:c.898G>C	NP_001351915.1:p.Val300Leu
NM_001364986.3:c.898G>C	NP_001351915.1:p.Val300Leu
NM_001394554.1:c.898G>C	NP_001381483.1:p.Val300Leu
NM_001394556.1:c.526G>C	NP_001381485.1:p.Val176Leu
NM_001394557.1:c.514G>C	NP_001381486.1:p.Val172Leu
NM_001394558.1:c.514G>C	NP_001381487.1:p.Val172Leu
NM_001394559.1:c.514G>C	NP_001381488.1:p.Val172Leu
NM_006605.3:c.601G>C	NP_006596.2:p.Val201Leu
ENST00000248980.8:c.601G>C	ENSP00000248980.4:p.Val201Leu
ENST00000248983.8:c.784G>C	ENSP00000248983.5:p.Val262Leu
ENST00000400237.2:c.784G>C	ENSP00000383096.1:p.Val262Leu
ENST00000489846.1:n.728G>C
ENST00000623133.1:c.24C>G	ENSP00000485273.1:p.Asn8Lys
ENST00000626996.2:c.*407G>C	ENSP00000486618.1:n.*407G>C
ENST00000628378.1:c.*407G>C	ENSP00000487290.1:n.*407G>C
ENST00000652607.1:c.784G>C	ENSP00000498332.1:p.Val262Leu
XM_005261310.1:c.514G>C	XP_005261367.1:p.Val172Leu
XM_011529826.1:c.898G>C	XP_011528128.1:p.Val300Leu
XM_011529826.2:c.898G>C	XP_011528128.1:p.Val300Leu
XM_011529827.1:c.898G>C	XP_011528129.1:p.Val300Leu
XM_011529827.3:c.898G>C	XP_011528129.1:p.Val300Leu
XM_011529828.1:c.898G>C	XP_011528130.1:p.Val300Leu
XM_011529828.2:c.898G>C	XP_011528130.1:p.Val300Leu
XM_011529829.1:c.898G>C	XP_011528131.1:p.Val300Leu
XM_011529830.1:c.898G>C	XP_011528132.1:p.Val300Leu
XM_011529831.1:c.898G>C	XP_011528133.1:p.Val300Leu
XM_011529832.1:c.784G>C	XP_011528134.1:p.Val262Leu
XM_011529832.2:c.784G>C	XP_011528134.1:p.Val262Leu