Canonical Allele Identifier: CA2103547229
Community Standard Title: NM_015057.5(MYCBP2):c.9756G= (p.Val3252=)
Gene: MYCBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77097398C= , CM000675.2:g.77097398C= GRCh38
NC_000013.10:g.77671533C= , CM000675.1:g.77671533C= GRCh37
NC_000013.9:g.76569534C= NCBI36
NG_053031.1:g.234645G=

Transcript Alleles

HGVS Amino-acid Change
NM_015057.5:c.9756G= MANE Select NP_055872.4:p.Val3252=
ENST00000544440.7:c.9756G= MANE Select ENSP00000444596.2:p.Val3252=
NM_015057.4:c.9756G= NP_055872.4:p.Val3252=
ENST00000357337.10:c.9642G= ENSP00000349892.5:p.Val3214=
ENST00000357337.11:c.9936G= ENSP00000349892.6:p.Val3312=
ENST00000485061.2:n.249G=
ENST00000544440.6:c.9642G= ENSP00000444596.1:p.Val3214=
ENST00000637192.1:c.214-12250C=
ENST00000638101.1:c.170-527C= ENSP00000490535.1:n.170-527C=
ENST00000682321.1:c.9987G= ENSP00000508023.1:p.Val3329=
ENST00000683697.1:c.10038G= ENSP00000508153.1:p.Val3346=
ENST00000683823.1:c.9831G= ENSP00000507196.1:p.Val3277=
ENST00000684354.1:c.9633G= ENSP00000507330.1:p.Val3211=
ENST00000695078.1:n.5867G=
ENST00000695079.1:c.9726G= ENSP00000511683.1:p.Val3242=
ENST00000695080.1:c.9531G= ENSP00000511684.1:p.Val3177=
ENST00000695081.1:c.9531G= ENSP00000511685.1:p.Val3177=
ENST00000695086.1:n.5867G=
XM_005266299.1:c.9987G= XP_005266356.1:p.Val3329=
XM_005266299.3:c.9987G= XP_005266356.1:p.Val3329=
XM_006719779.1:c.10113G= XP_006719842.1:p.Val3371=
XM_006719779.3:c.10113G= XP_006719842.1:p.Val3371=
XM_006719780.1:c.10113G= XP_006719843.1:p.Val3371=
XM_006719780.3:c.10113G= XP_006719843.1:p.Val3371=
XM_006719781.1:c.10089G= XP_006719844.1:p.Val3363=
XM_006719781.3:c.10089G= XP_006719844.1:p.Val3363=
XM_006719782.1:c.10038G= XP_006719845.1:p.Val3346=
XM_006719782.3:c.10038G= XP_006719845.1:p.Val3346=
XM_006719783.1:c.10011G= XP_006719846.1:p.Val3337=
XM_006719783.3:c.10011G= XP_006719846.1:p.Val3337=
XM_006719784.1:c.10005G= XP_006719847.1:p.Val3335=
XM_006719784.3:c.10005G= XP_006719847.1:p.Val3335=
XM_006719785.1:c.9933G= XP_006719848.1:p.Val3311=
XM_006719785.3:c.9933G= XP_006719848.1:p.Val3311=
XM_006719786.1:c.9831G= XP_006719849.1:p.Val3277=
XM_006719786.3:c.9831G= XP_006719849.1:p.Val3277=
XM_006719787.1:c.9813G= XP_006719850.1:p.Val3271=
XM_006719787.3:c.9813G= XP_006719850.1:p.Val3271=
XM_006719788.1:c.9789G= XP_006719851.1:p.Val3263=
XM_006719788.3:c.9789G= XP_006719851.1:p.Val3263=
XM_006719789.1:c.9987G= XP_006719852.1:p.Val3329=
XM_006719789.3:c.9987G= XP_006719852.1:p.Val3329=
XM_011535003.1:c.9912G= XP_011533305.1:p.Val3304=
XM_011535004.1:c.9786G= XP_011533306.1:p.Val3262=
XM_011535004.2:c.9786G= XP_011533306.1:p.Val3262=
XM_011535005.1:c.7248G= XP_011533307.1:p.Val2416=
XM_011535005.2:c.7248G= XP_011533307.1:p.Val2416=
XM_017020454.2:c.10056G= XP_016875943.1:p.Val3352=
XM_017020455.2:c.9981G= XP_016875944.1:p.Val3327=
XM_017020456.2:c.9930G= XP_016875945.1:p.Val3310=
XM_017020457.2:c.9912G= XP_016875946.1:p.Val3304=
XM_017020458.2:c.9879G= XP_016875947.1:p.Val3293=
XM_017020459.2:c.9723G= XP_016875948.1:p.Val3241=
XM_017020460.2:c.9711G= XP_016875949.1:p.Val3237=
XM_017020461.2:c.9699G= XP_016875950.1:p.Val3233=
XM_017020462.2:c.9687G= XP_016875951.1:p.Val3229=
XM_017020463.2:c.9648G= XP_016875952.1:p.Val3216=
XM_017020464.2:c.9633G= XP_016875953.1:p.Val3211=
XM_017020465.2:c.9579G= XP_016875954.1:p.Val3193=
XM_017020466.2:c.9531G= XP_016875955.1:p.Val3177=
XM_017020467.2:c.9531G= XP_016875956.1:p.Val3177=
XM_017020468.1:c.9318G= XP_016875957.1:p.Val3106=