Canonical Allele Identifier: CA388412693

Gene: MYCBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77161951A>C , CM000675.2:g.77161951A>C	GRCh38
NC_000013.10:g.77736086A>C , CM000675.1:g.77736086A>C	GRCh37
NC_000013.9:g.76634087A>C	NCBI36
NG_053031.1:g.170092T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486679.3:n.2888T>G
ENST00000695078.1:n.2888T>G
ENST00000695079.1:c.6552T>G	ENSP00000511683.1:p.Asn2184Lys
ENST00000695080.1:c.6552T>G	ENSP00000511684.1:p.Asn2184Lys
ENST00000695081.1:c.6552T>G	ENSP00000511685.1:p.Asn2184Lys
ENST00000695086.1:n.2888T>G
ENST00000695089.1:n.1123T>G
ENST00000357337.11:c.6552T>G	ENSP00000349892.6:p.Asn2184Lys
ENST00000682321.1:c.6552T>G	ENSP00000508023.1:p.Asn2184Lys
ENST00000683697.1:c.6552T>G	ENSP00000508153.1:p.Asn2184Lys
ENST00000683823.1:c.6552T>G	ENSP00000507196.1:p.Asn2184Lys
ENST00000684354.1:c.6552T>G	ENSP00000507330.1:p.Asn2184Lys
ENST00000544440.7:c.6552T>G MANE Select	ENSP00000444596.2:p.Asn2184Lys
ENST00000357337.10:c.6438T>G	ENSP00000349892.5:p.Asn2146Lys
ENST00000544440.6:c.6438T>G	ENSP00000444596.1:p.Asn2146Lys
NM_015057.4:c.6552T>G	NP_055872.4:p.Asn2184Lys
XM_005266299.1:c.6552T>G	XP_005266356.1:p.Asn2184Lys
XM_006719779.1:c.6552T>G	XP_006719842.1:p.Asn2184Lys
XM_006719780.1:c.6552T>G	XP_006719843.1:p.Asn2184Lys
XM_006719781.1:c.6552T>G	XP_006719844.1:p.Asn2184Lys
XM_006719782.1:c.6552T>G	XP_006719845.1:p.Asn2184Lys
XM_006719783.1:c.6552T>G	XP_006719846.1:p.Asn2184Lys
XM_006719784.1:c.6444T>G	XP_006719847.1:p.Asn2148Lys
XM_006719785.1:c.6552T>G	XP_006719848.1:p.Asn2184Lys
XM_006719786.1:c.6552T>G	XP_006719849.1:p.Asn2184Lys
XM_006719787.1:c.6552T>G	XP_006719850.1:p.Asn2184Lys
XM_006719788.1:c.6552T>G	XP_006719851.1:p.Asn2184Lys
XM_006719789.1:c.6552T>G	XP_006719852.1:p.Asn2184Lys
XM_011535003.1:c.6351T>G	XP_011533305.1:p.Asn2117Lys
XM_011535004.1:c.6225T>G	XP_011533306.1:p.Asn2075Lys
XM_011535005.1:c.3687T>G	XP_011533307.1:p.Asn1229Lys
XM_005266299.3:c.6552T>G	XP_005266356.1:p.Asn2184Lys
XM_006719779.3:c.6552T>G	XP_006719842.1:p.Asn2184Lys
XM_006719780.3:c.6552T>G	XP_006719843.1:p.Asn2184Lys
XM_006719781.3:c.6552T>G	XP_006719844.1:p.Asn2184Lys
XM_006719782.3:c.6552T>G	XP_006719845.1:p.Asn2184Lys
XM_006719783.3:c.6552T>G	XP_006719846.1:p.Asn2184Lys
XM_006719784.3:c.6444T>G	XP_006719847.1:p.Asn2148Lys
XM_006719785.3:c.6552T>G	XP_006719848.1:p.Asn2184Lys
XM_006719786.3:c.6552T>G	XP_006719849.1:p.Asn2184Lys
XM_006719787.3:c.6552T>G	XP_006719850.1:p.Asn2184Lys
XM_006719788.3:c.6552T>G	XP_006719851.1:p.Asn2184Lys
XM_006719789.3:c.6552T>G	XP_006719852.1:p.Asn2184Lys
XM_011535004.2:c.6225T>G	XP_011533306.1:p.Asn2075Lys
XM_011535005.2:c.3687T>G	XP_011533307.1:p.Asn1229Lys
XM_017020454.2:c.6552T>G	XP_016875943.1:p.Asn2184Lys
XM_017020455.2:c.6552T>G	XP_016875944.1:p.Asn2184Lys
XM_017020456.2:c.6552T>G	XP_016875945.1:p.Asn2184Lys
XM_017020457.2:c.6552T>G	XP_016875946.1:p.Asn2184Lys
XM_017020458.2:c.6444T>G	XP_016875947.1:p.Asn2148Lys
XM_017020459.2:c.6444T>G	XP_016875948.1:p.Asn2148Lys
XM_017020460.2:c.6552T>G	XP_016875949.1:p.Asn2184Lys
XM_017020461.2:c.6552T>G	XP_016875950.1:p.Asn2184Lys
XM_017020462.2:c.6552T>G	XP_016875951.1:p.Asn2184Lys
XM_017020463.2:c.6444T>G	XP_016875952.1:p.Asn2148Lys
XM_017020464.2:c.6552T>G	XP_016875953.1:p.Asn2184Lys
XM_017020465.2:c.6444T>G	XP_016875954.1:p.Asn2148Lys
XM_017020466.2:c.6552T>G	XP_016875955.1:p.Asn2184Lys
XM_017020467.2:c.6552T>G	XP_016875956.1:p.Asn2184Lys
XM_017020468.1:c.5757T>G	XP_016875957.1:p.Asn1919Lys
NM_015057.5:c.6552T>G MANE Select	NP_055872.4:p.Asn2184Lys