Canonical Allele Identifier: CA444801159

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70931010T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635183T>C , CM000667.2:g.71635183T>C	GRCh38
NC_000005.9:g.70931010T>C , CM000667.1:g.70931010T>C	GRCh37
NC_000005.8:g.70966766T>C	NCBI36
NG_008882.1:g.52896T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000505435.4:n.892T>C
ENST00000505787.8:n.2776T>C
ENST00000509358.7:c.936T>C	ENSP00000420994.3:p.Phe312=
ENST00000509539.3:c.198T>C	ENSP00000425474.3:p.Phe66=
ENST00000510895.7:n.1059T>C
ENST00000629193.3:c.822T>C	ENSP00000486535.2:p.Phe274=
ENST00000681968.1:c.429T>C	ENSP00000508143.1:p.Phe143=
ENST00000682045.1:c.792T>C	ENSP00000507329.1:p.Phe264=
ENST00000682214.1:c.543T>C	ENSP00000507336.1:p.Phe181=
ENST00000682499.1:n.1757T>C
ENST00000682541.1:c.936T>C	ENSP00000507673.1:p.Phe312=
ENST00000682687.1:c.936T>C	ENSP00000507945.1:p.Phe312=
ENST00000682727.1:c.936T>C	ENSP00000507393.1:p.Phe312=
ENST00000682876.1:c.1065T>C	ENSP00000508389.1:p.Phe355=
ENST00000683098.1:c.803+2998T>C	ENSP00000507670.1:n.803+2998T>C
ENST00000683258.1:c.*657T>C	ENSP00000507448.1:n.*657T>C
ENST00000683339.1:c.720T>C	ENSP00000507758.1:p.Phe240=
ENST00000683403.1:c.846T>C	ENSP00000507896.1:p.Phe282=
ENST00000683429.1:c.543T>C	ENSP00000507697.1:p.Phe181=
ENST00000683665.1:c.936T>C	ENSP00000507068.1:p.Phe312=
ENST00000683789.1:c.822T>C	ENSP00000507012.1:p.Phe274=
ENST00000683847.1:n.780T>C
ENST00000683882.1:c.936T>C	ENSP00000506735.1:p.Phe312=
ENST00000684024.1:c.*607T>C	ENSP00000507175.1:n.*607T>C
ENST00000684254.1:c.*662T>C	ENSP00000508001.1:n.*662T>C
ENST00000684310.1:c.165+141T>C	ENSP00000507550.1:n.165+141T>C
ENST00000684530.1:c.198T>C	ENSP00000507439.1:p.Phe66=
ENST00000684652.1:n.1938T>C
ENST00000340941.11:c.936T>C MANE Select	ENSP00000343657.6:p.Phe312=
ENST00000340941.10:c.936T>C	ENSP00000343657.6:p.Phe312=
ENST00000505435.3:n.287T>C
ENST00000509358.6:c.936T>C	ENSP00000420994.2:p.Phe312=
ENST00000509539.2:c.261T>C	ENSP00000425474.2:p.Phe87=
ENST00000510895.6:n.550T>C
ENST00000512218.6:c.822T>C	ENSP00000423202.2:p.Phe274=
ENST00000629193.2:c.822T>C	ENSP00000486535.1:p.Phe274=
NM_022132.4:c.936T>C	NP_071415.1:p.Phe312=
XM_005248567.1:c.822T>C	XP_005248624.1:p.Phe274=
XM_011543528.1:c.936T>C	XP_011541830.1:p.Phe312=
XM_011543529.1:c.936T>C	XP_011541831.1:p.Phe312=
NM_001363147.1:c.822T>C	NP_001350076.1:p.Phe274=
XM_011543529.2:c.936T>C	XP_011541831.1:p.Phe312=
XM_017009688.1:c.936T>C	XP_016865177.1:p.Phe312=
XR_001742172.1:n.976T>C
NM_022132.5:c.936T>C MANE Select	NP_071415.1:p.Phe312=