Canonical Allele Identifier: CA388387814
Community Standard Title: NM_015057.5(MYCBP2):c.9758C>G (p.Thr3253Ser)
Gene: MYCBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77097396G>C , CM000675.2:g.77097396G>C GRCh38
NC_000013.10:g.77671531G>C , CM000675.1:g.77671531G>C GRCh37
NC_000013.9:g.76569532G>C NCBI36
NG_053031.1:g.234647C>G

Transcript Alleles

HGVS Amino-acid Change
NM_015057.5:c.9758C>G MANE Select NP_055872.4:p.Thr3253Ser
ENST00000544440.7:c.9758C>G MANE Select ENSP00000444596.2:p.Thr3253Ser
NM_015057.4:c.9758C>G NP_055872.4:p.Thr3253Ser
ENST00000357337.10:c.9644C>G ENSP00000349892.5:p.Thr3215Ser
ENST00000357337.11:c.9938C>G ENSP00000349892.6:p.Thr3313Ser
ENST00000485061.2:n.251C>G
ENST00000544440.6:c.9644C>G ENSP00000444596.1:p.Thr3215Ser
ENST00000637192.1:c.214-12252G>C
ENST00000638101.1:c.170-529G>C ENSP00000490535.1:n.170-529G>C
ENST00000682321.1:c.9989C>G ENSP00000508023.1:p.Thr3330Ser
ENST00000683697.1:c.10040C>G ENSP00000508153.1:p.Thr3347Ser
ENST00000683823.1:c.9833C>G ENSP00000507196.1:p.Thr3278Ser
ENST00000684354.1:c.9635C>G ENSP00000507330.1:p.Thr3212Ser
ENST00000695078.1:n.5869C>G
ENST00000695079.1:c.9728C>G ENSP00000511683.1:p.Thr3243Ser
ENST00000695080.1:c.9533C>G ENSP00000511684.1:p.Thr3178Ser
ENST00000695081.1:c.9533C>G ENSP00000511685.1:p.Thr3178Ser
ENST00000695086.1:n.5869C>G
XM_005266299.1:c.9989C>G XP_005266356.1:p.Thr3330Ser
XM_005266299.3:c.9989C>G XP_005266356.1:p.Thr3330Ser
XM_006719779.1:c.10115C>G XP_006719842.1:p.Thr3372Ser
XM_006719779.3:c.10115C>G XP_006719842.1:p.Thr3372Ser
XM_006719780.1:c.10115C>G XP_006719843.1:p.Thr3372Ser
XM_006719780.3:c.10115C>G XP_006719843.1:p.Thr3372Ser
XM_006719781.1:c.10091C>G XP_006719844.1:p.Thr3364Ser
XM_006719781.3:c.10091C>G XP_006719844.1:p.Thr3364Ser
XM_006719782.1:c.10040C>G XP_006719845.1:p.Thr3347Ser
XM_006719782.3:c.10040C>G XP_006719845.1:p.Thr3347Ser
XM_006719783.1:c.10013C>G XP_006719846.1:p.Thr3338Ser
XM_006719783.3:c.10013C>G XP_006719846.1:p.Thr3338Ser
XM_006719784.1:c.10007C>G XP_006719847.1:p.Thr3336Ser
XM_006719784.3:c.10007C>G XP_006719847.1:p.Thr3336Ser
XM_006719785.1:c.9935C>G XP_006719848.1:p.Thr3312Ser
XM_006719785.3:c.9935C>G XP_006719848.1:p.Thr3312Ser
XM_006719786.1:c.9833C>G XP_006719849.1:p.Thr3278Ser
XM_006719786.3:c.9833C>G XP_006719849.1:p.Thr3278Ser
XM_006719787.1:c.9815C>G XP_006719850.1:p.Thr3272Ser
XM_006719787.3:c.9815C>G XP_006719850.1:p.Thr3272Ser
XM_006719788.1:c.9791C>G XP_006719851.1:p.Thr3264Ser
XM_006719788.3:c.9791C>G XP_006719851.1:p.Thr3264Ser
XM_006719789.1:c.9989C>G XP_006719852.1:p.Thr3330Ser
XM_006719789.3:c.9989C>G XP_006719852.1:p.Thr3330Ser
XM_011535003.1:c.9914C>G XP_011533305.1:p.Thr3305Ser
XM_011535004.1:c.9788C>G XP_011533306.1:p.Thr3263Ser
XM_011535004.2:c.9788C>G XP_011533306.1:p.Thr3263Ser
XM_011535005.1:c.7250C>G XP_011533307.1:p.Thr2417Ser
XM_011535005.2:c.7250C>G XP_011533307.1:p.Thr2417Ser
XM_017020454.2:c.10058C>G XP_016875943.1:p.Thr3353Ser
XM_017020455.2:c.9983C>G XP_016875944.1:p.Thr3328Ser
XM_017020456.2:c.9932C>G XP_016875945.1:p.Thr3311Ser
XM_017020457.2:c.9914C>G XP_016875946.1:p.Thr3305Ser
XM_017020458.2:c.9881C>G XP_016875947.1:p.Thr3294Ser
XM_017020459.2:c.9725C>G XP_016875948.1:p.Thr3242Ser
XM_017020460.2:c.9713C>G XP_016875949.1:p.Thr3238Ser
XM_017020461.2:c.9701C>G XP_016875950.1:p.Thr3234Ser
XM_017020462.2:c.9689C>G XP_016875951.1:p.Thr3230Ser
XM_017020463.2:c.9650C>G XP_016875952.1:p.Thr3217Ser
XM_017020464.2:c.9635C>G XP_016875953.1:p.Thr3212Ser
XM_017020465.2:c.9581C>G XP_016875954.1:p.Thr3194Ser
XM_017020466.2:c.9533C>G XP_016875955.1:p.Thr3178Ser
XM_017020467.2:c.9533C>G XP_016875956.1:p.Thr3178Ser
XM_017020468.1:c.9320C>G XP_016875957.1:p.Thr3107Ser