Canonical Allele Identifier: CA3297910

Gene: MCCC2

Linked Data

• dbSNP Id: rs753100774
• ExAC: 5:70930845 T / A
• gnomAD v2: 5-70930845-T-A
• gnomAD v4: 5-71635018-T-A
• MyVariant Identifiers: chr5:g.70930845T>A (hg19) ; chr5:g.71635018T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635018T>A , CM000667.2:g.71635018T>A	GRCh38
NC_000005.9:g.70930845T>A , CM000667.1:g.70930845T>A	GRCh37
NC_000005.8:g.70966601T>A	NCBI36
NG_008882.1:g.52731T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.835T>A
ENST00000505787.8:n.2719T>A
ENST00000509358.7:c.879T>A	ENSP00000420994.3:p.Asn293Lys
ENST00000509539.3:c.141T>A	ENSP00000425474.3:p.Asn47Lys
ENST00000510895.7:n.1002T>A
ENST00000629193.3:c.765T>A	ENSP00000486535.2:p.Asn255Lys
ENST00000681968.1:c.372T>A	ENSP00000508143.1:p.Asn124Lys
ENST00000682045.1:c.735T>A	ENSP00000507329.1:p.Asn245Lys
ENST00000682214.1:c.486T>A	ENSP00000507336.1:p.Asn162Lys
ENST00000682499.1:n.1700T>A
ENST00000682541.1:c.879T>A	ENSP00000507673.1:p.Asn293Lys
ENST00000682687.1:c.879T>A	ENSP00000507945.1:p.Asn293Lys
ENST00000682727.1:c.879T>A	ENSP00000507393.1:p.Asn293Lys
ENST00000682876.1:c.1008T>A	ENSP00000508389.1:p.Asn336Lys
ENST00000683098.1:c.803+2833T>A	ENSP00000507670.1:n.803+2833T>A
ENST00000683258.1:c.*600T>A	ENSP00000507448.1:n.*600T>A
ENST00000683339.1:c.663T>A	ENSP00000507758.1:p.Asn221Lys
ENST00000683403.1:c.813+66T>A	ENSP00000507896.1:n.813+66T>A
ENST00000683429.1:c.486T>A	ENSP00000507697.1:p.Asn162Lys
ENST00000683665.1:c.879T>A	ENSP00000507068.1:p.Asn293Lys
ENST00000683789.1:c.765T>A	ENSP00000507012.1:p.Asn255Lys
ENST00000683847.1:n.723T>A
ENST00000683882.1:c.879T>A	ENSP00000506735.1:p.Asn293Lys
ENST00000684024.1:c.*550T>A	ENSP00000507175.1:n.*550T>A
ENST00000684254.1:c.*605T>A	ENSP00000508001.1:n.*605T>A
ENST00000684310.1:c.141T>A	ENSP00000507550.1:p.Asn47Lys
ENST00000684530.1:c.141T>A	ENSP00000507439.1:p.Asn47Lys
ENST00000684652.1:n.1881T>A
ENST00000340941.11:c.879T>A MANE Select	ENSP00000343657.6:p.Asn293Lys
ENST00000340941.10:c.879T>A	ENSP00000343657.6:p.Asn293Lys
ENST00000505435.3:n.230T>A
ENST00000505787.7:n.693T>A
ENST00000509358.6:c.879T>A	ENSP00000420994.2:p.Asn293Lys
ENST00000509539.2:c.204T>A	ENSP00000425474.2:p.Asn68Lys
ENST00000510895.6:n.493T>A
ENST00000512218.6:c.765T>A	ENSP00000423202.2:p.Asn255Lys
ENST00000629193.2:c.765T>A	ENSP00000486535.1:p.Asn255Lys
NM_022132.4:c.879T>A	NP_071415.1:p.Asn293Lys
XM_005248567.1:c.765T>A	XP_005248624.1:p.Asn255Lys
XM_011543528.1:c.879T>A	XP_011541830.1:p.Asn293Lys
XM_011543529.1:c.879T>A	XP_011541831.1:p.Asn293Lys
NM_001363147.1:c.765T>A	NP_001350076.1:p.Asn255Lys
XM_011543529.2:c.879T>A	XP_011541831.1:p.Asn293Lys
XM_017009688.1:c.879T>A	XP_016865177.1:p.Asn293Lys
XR_001742172.1:n.919T>A
NM_022132.5:c.879T>A MANE Select	NP_071415.1:p.Asn293Lys