Canonical Allele Identifier: CA3297942

Gene: MCCC2

Linked Data

• ClinVar Variation Id: 384260
• ClinVar RCV Id: RCV000443240 ; RCV000541299
• dbSNP Id: rs112793062
• ExAC: 5:70931043 T / C
• gnomAD v2: 5-70931043-T-C
• gnomAD v3: 5-71635216-T-C
• gnomAD v4: 5-71635216-T-C
• MyVariant Identifiers: chr5:g.70931043T>C (hg19) ; chr5:g.71635216T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635216T>C , CM000667.2:g.71635216T>C	GRCh38
NC_000005.9:g.70931043T>C , CM000667.1:g.70931043T>C	GRCh37
NC_000005.8:g.70966799T>C	NCBI36
NG_008882.1:g.52929T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.925T>C
ENST00000505787.8:n.2809T>C
ENST00000509358.7:c.969T>C	ENSP00000420994.3:p.Ala323=
ENST00000509539.3:c.231T>C	ENSP00000425474.3:p.Ala77=
ENST00000510895.7:n.1092T>C
ENST00000629193.3:c.855T>C	ENSP00000486535.2:p.Ala285=
ENST00000681968.1:c.462T>C	ENSP00000508143.1:p.Ala154=
ENST00000682045.1:c.825T>C	ENSP00000507329.1:p.Ala275=
ENST00000682214.1:c.576T>C	ENSP00000507336.1:p.Ala192=
ENST00000682499.1:n.1790T>C
ENST00000682541.1:c.969T>C	ENSP00000507673.1:p.Ala323=
ENST00000682687.1:c.969T>C	ENSP00000507945.1:p.Ala323=
ENST00000682727.1:c.969T>C	ENSP00000507393.1:p.Ala323=
ENST00000682876.1:c.1098T>C	ENSP00000508389.1:p.Ala366=
ENST00000683098.1:c.803+3031T>C	ENSP00000507670.1:n.803+3031T>C
ENST00000683258.1:c.*690T>C	ENSP00000507448.1:n.*690T>C
ENST00000683339.1:c.753T>C	ENSP00000507758.1:p.Ala251=
ENST00000683403.1:c.879T>C	ENSP00000507896.1:p.Ala293=
ENST00000683429.1:c.576T>C	ENSP00000507697.1:p.Ala192=
ENST00000683665.1:c.969T>C	ENSP00000507068.1:p.Ala323=
ENST00000683789.1:c.855T>C	ENSP00000507012.1:p.Ala285=
ENST00000683847.1:n.813T>C
ENST00000683882.1:c.969T>C	ENSP00000506735.1:p.Ala323=
ENST00000684024.1:c.*640T>C	ENSP00000507175.1:n.*640T>C
ENST00000684254.1:c.*695T>C	ENSP00000508001.1:n.*695T>C
ENST00000684310.1:c.165+174T>C	ENSP00000507550.1:n.165+174T>C
ENST00000684530.1:c.231T>C	ENSP00000507439.1:p.Ala77=
ENST00000684652.1:n.1971T>C
ENST00000340941.11:c.969T>C MANE Select	ENSP00000343657.6:p.Ala323=
ENST00000340941.10:c.969T>C	ENSP00000343657.6:p.Ala323=
ENST00000505435.3:n.320T>C
ENST00000509358.6:c.969T>C	ENSP00000420994.2:p.Ala323=
ENST00000509539.2:c.294T>C	ENSP00000425474.2:p.Ala98=
ENST00000510895.6:n.583T>C
ENST00000512218.6:c.855T>C	ENSP00000423202.2:p.Ala285=
ENST00000629193.2:c.855T>C	ENSP00000486535.1:p.Ala285=
NM_022132.4:c.969T>C	NP_071415.1:p.Ala323=
XM_005248567.1:c.855T>C	XP_005248624.1:p.Ala285=
XM_011543528.1:c.969T>C	XP_011541830.1:p.Ala323=
XM_011543529.1:c.969T>C	XP_011541831.1:p.Ala323=
NM_001363147.1:c.855T>C	NP_001350076.1:p.Ala285=
XM_011543529.2:c.969T>C	XP_011541831.1:p.Ala323=
XM_017009688.1:c.969T>C	XP_016865177.1:p.Ala323=
XR_001742172.1:n.1009T>C
NM_022132.5:c.969T>C MANE Select	NP_071415.1:p.Ala323=