Canonical Allele Identifier: CA3297936

Gene: MCCC2

Linked Data

• dbSNP Id: rs778632953
• ExAC: 5:70931013 T / C
• gnomAD v2: 5-70931013-T-C
• gnomAD v4: 5-71635186-T-C
• MyVariant Identifiers: chr5:g.70931013T>C (hg19) ; chr5:g.71635186T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635186T>C , CM000667.2:g.71635186T>C	GRCh38
NC_000005.9:g.70931013T>C , CM000667.1:g.70931013T>C	GRCh37
NC_000005.8:g.70966769T>C	NCBI36
NG_008882.1:g.52899T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000505435.4:n.895T>C
ENST00000505787.8:n.2779T>C
ENST00000509358.7:c.939T>C	ENSP00000420994.3:p.Pro313=
ENST00000509539.3:c.201T>C	ENSP00000425474.3:p.Pro67=
ENST00000510895.7:n.1062T>C
ENST00000629193.3:c.825T>C	ENSP00000486535.2:p.Pro275=
ENST00000681968.1:c.432T>C	ENSP00000508143.1:p.Pro144=
ENST00000682045.1:c.795T>C	ENSP00000507329.1:p.Pro265=
ENST00000682214.1:c.546T>C	ENSP00000507336.1:p.Pro182=
ENST00000682499.1:n.1760T>C
ENST00000682541.1:c.939T>C	ENSP00000507673.1:p.Pro313=
ENST00000682687.1:c.939T>C	ENSP00000507945.1:p.Pro313=
ENST00000682727.1:c.939T>C	ENSP00000507393.1:p.Pro313=
ENST00000682876.1:c.1068T>C	ENSP00000508389.1:p.Pro356=
ENST00000683098.1:c.803+3001T>C	ENSP00000507670.1:n.803+3001T>C
ENST00000683258.1:c.*660T>C	ENSP00000507448.1:n.*660T>C
ENST00000683339.1:c.723T>C	ENSP00000507758.1:p.Pro241=
ENST00000683403.1:c.849T>C	ENSP00000507896.1:p.Pro283=
ENST00000683429.1:c.546T>C	ENSP00000507697.1:p.Pro182=
ENST00000683665.1:c.939T>C	ENSP00000507068.1:p.Pro313=
ENST00000683789.1:c.825T>C	ENSP00000507012.1:p.Pro275=
ENST00000683847.1:n.783T>C
ENST00000683882.1:c.939T>C	ENSP00000506735.1:p.Pro313=
ENST00000684024.1:c.*610T>C	ENSP00000507175.1:n.*610T>C
ENST00000684254.1:c.*665T>C	ENSP00000508001.1:n.*665T>C
ENST00000684310.1:c.165+144T>C	ENSP00000507550.1:n.165+144T>C
ENST00000684530.1:c.201T>C	ENSP00000507439.1:p.Pro67=
ENST00000684652.1:n.1941T>C
ENST00000340941.11:c.939T>C MANE Select	ENSP00000343657.6:p.Pro313=
ENST00000340941.10:c.939T>C	ENSP00000343657.6:p.Pro313=
ENST00000505435.3:n.290T>C
ENST00000509358.6:c.939T>C	ENSP00000420994.2:p.Pro313=
ENST00000509539.2:c.264T>C	ENSP00000425474.2:p.Pro88=
ENST00000510895.6:n.553T>C
ENST00000512218.6:c.825T>C	ENSP00000423202.2:p.Pro275=
ENST00000629193.2:c.825T>C	ENSP00000486535.1:p.Pro275=
NM_022132.4:c.939T>C	NP_071415.1:p.Pro313=
XM_005248567.1:c.825T>C	XP_005248624.1:p.Pro275=
XM_011543528.1:c.939T>C	XP_011541830.1:p.Pro313=
XM_011543529.1:c.939T>C	XP_011541831.1:p.Pro313=
NM_001363147.1:c.825T>C	NP_001350076.1:p.Pro275=
XM_011543529.2:c.939T>C	XP_011541831.1:p.Pro313=
XM_017009688.1:c.939T>C	XP_016865177.1:p.Pro313=
XR_001742172.1:n.979T>C
NM_022132.5:c.939T>C MANE Select	NP_071415.1:p.Pro313=