Canonical Allele Identifier: CA384306881
Community Standard Title: NM_001286176.2(C2CD5):c.2773G>A (p.Val925Ile)
Gene: C2CD5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.22457075C>T , CM000674.2:g.22457075C>T GRCh38
NC_000012.11:g.22610009C>T , CM000674.1:g.22610009C>T GRCh37
NC_000012.10:g.22501276C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001286176.2:c.2773G>A MANE Select NP_001273105.1:p.Val925Ile
ENST00000446597.6:c.2773G>A MANE Select ENSP00000388756.1:p.Val925Ile
NM_001286173.1:c.2779G>A NP_001273102.1:p.Val927Ile
NM_001286173.2:c.2779G>A NP_001273102.1:p.Val927Ile
NM_001286174.1:c.2773G>A NP_001273103.1:p.Val925Ile
NM_001286174.2:c.2773G>A NP_001273103.1:p.Val925Ile
NM_001286174.3:c.2773G>A NP_001273103.1:p.Val925Ile
NM_001286175.1:c.2782G>A NP_001273104.1:p.Val928Ile
NM_001286175.2:c.2782G>A NP_001273104.1:p.Val928Ile
NM_001286176.1:c.2773G>A NP_001273105.1:p.Val925Ile
NM_001286177.1:c.2746G>A NP_001273106.1:p.Val916Ile
NM_001286177.2:c.2746G>A NP_001273106.1:p.Val916Ile
NM_001385322.1:c.2965G>A NP_001372251.1:p.Val989Ile
NM_001385323.1:c.2812G>A NP_001372252.1:p.Val938Ile
NM_001385324.1:c.2743G>A NP_001372253.1:p.Val915Ile
NM_001385325.1:c.2716G>A NP_001372254.1:p.Val906Ile
NM_001385326.1:c.2695G>A NP_001372255.1:p.Val899Ile
NM_001385327.1:c.2671G>A NP_001372256.1:p.Val891Ile
NM_001385328.1:c.2659G>A NP_001372257.1:p.Val887Ile
NM_001385329.1:c.2584G>A NP_001372258.1:p.Val862Ile
NM_001385330.1:c.2533G>A NP_001372259.1:p.Val845Ile
NM_001385331.1:c.1915G>A NP_001372260.1:p.Val639Ile
NM_001385332.1:c.1360G>A NP_001372261.1:p.Val454Ile
NM_001385333.1:c.2038G>A NP_001372262.1:p.Val680Ile
NM_014802.2:c.2620G>A NP_055617.1:p.Val874Ile
NM_014802.3:c.2620G>A NP_055617.1:p.Val874Ile
NR_169598.1:n.2849G>A
ENST00000333957.8:c.2620G>A ENSP00000334229.4:p.Val874Ile
ENST00000396028.6:c.2746G>A ENSP00000379345.2:p.Val916Ile
ENST00000446597.5:c.2773G>A ENSP00000388756.1:p.Val925Ile
ENST00000536386.5:c.2779G>A ENSP00000439392.1:p.Val927Ile
ENST00000539615.1:c.522G>A
ENST00000542676.5:c.2773G>A ENSP00000441951.1:p.Val925Ile
ENST00000543888.1:n.468G>A
ENST00000545552.5:c.2782G>A ENSP00000443204.1:p.Val928Ile
XM_005253538.2:c.2593G>A XP_005253595.1:p.Val865Ile
XM_005253539.2:c.1639G>A XP_005253596.1:p.Val547Ile
XM_005253539.3:c.1639G>A XP_005253596.1:p.Val547Ile
XM_006719164.2:c.2872G>A XP_006719227.1:p.Val958Ile
XM_006719165.2:c.2845G>A XP_006719228.1:p.Val949Ile
XM_006719166.2:c.2839G>A XP_006719229.1:p.Val947Ile
XM_006719167.2:c.2821G>A XP_006719230.1:p.Val941Ile
XM_006719168.2:c.2806G>A XP_006719231.1:p.Val936Ile
XM_006719169.2:c.2719G>A XP_006719232.1:p.Val907Ile
XM_006719170.2:c.2671G>A XP_006719233.1:p.Val891Ile
XM_011520885.1:c.2842G>A XP_011519187.1:p.Val948Ile
XM_011520886.1:c.2770G>A XP_011519188.1:p.Val924Ile
XM_011520887.1:c.1918G>A XP_011519189.1:p.Val640Ile
XM_017020264.1:c.3103G>A XP_016875753.1:p.Val1035Ile
XM_017020265.1:c.3073G>A XP_016875754.1:p.Val1025Ile
XM_017020266.1:c.3052G>A XP_016875755.1:p.Val1018Ile
XM_017020267.1:c.3031G>A XP_016875756.1:p.Val1011Ile
XM_017020268.1:c.2965G>A XP_016875757.1:p.Val989Ile
XM_017020269.1:c.2950G>A XP_016875758.1:p.Val984Ile
XM_017020270.1:c.2911G>A XP_016875759.1:p.Val971Ile
XM_017020271.1:c.2884G>A XP_016875760.1:p.Val962Ile
XM_017020272.1:c.2812G>A XP_016875761.1:p.Val938Ile
XM_017020273.1:c.2761G>A XP_016875762.1:p.Val921Ile
XM_017020274.1:c.2743G>A XP_016875763.1:p.Val915Ile
XM_017020275.1:c.2731G>A XP_016875764.1:p.Val911Ile
XM_017020276.1:c.2716G>A XP_016875765.1:p.Val906Ile
XM_017020277.1:c.2695G>A XP_016875766.1:p.Val899Ile
XM_017020278.1:c.2659G>A XP_016875767.1:p.Val887Ile
XM_017020279.1:c.1957G>A XP_016875768.1:p.Val653Ile