Canonical Allele Identifier: CA359987058

Gene: MCCC2

Linked Data

• dbSNP Id: rs1409709657
• gnomAD v2: 5-70930853-A-C
• gnomAD v4: 5-71635026-A-C
• MyVariant Identifiers: chr5:g.70930853A>C (hg19) ; chr5:g.71635026A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635026A>C , CM000667.2:g.71635026A>C	GRCh38
NC_000005.9:g.70930853A>C , CM000667.1:g.70930853A>C	GRCh37
NC_000005.8:g.70966609A>C	NCBI36
NG_008882.1:g.52739A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.843A>C
ENST00000505787.8:n.2727A>C
ENST00000509358.7:c.887A>C	ENSP00000420994.3:p.Tyr296Ser
ENST00000509539.3:c.149A>C	ENSP00000425474.3:p.Tyr50Ser
ENST00000510895.7:n.1010A>C
ENST00000629193.3:c.773A>C	ENSP00000486535.2:p.Tyr258Ser
ENST00000681968.1:c.380A>C	ENSP00000508143.1:p.Tyr127Ser
ENST00000682045.1:c.743A>C	ENSP00000507329.1:p.Tyr248Ser
ENST00000682214.1:c.494A>C	ENSP00000507336.1:p.Tyr165Ser
ENST00000682499.1:n.1708A>C
ENST00000682541.1:c.887A>C	ENSP00000507673.1:p.Tyr296Ser
ENST00000682687.1:c.887A>C	ENSP00000507945.1:p.Tyr296Ser
ENST00000682727.1:c.887A>C	ENSP00000507393.1:p.Tyr296Ser
ENST00000682876.1:c.1016A>C	ENSP00000508389.1:p.Tyr339Ser
ENST00000683098.1:c.803+2841A>C	ENSP00000507670.1:n.803+2841A>C
ENST00000683258.1:c.*608A>C	ENSP00000507448.1:n.*608A>C
ENST00000683339.1:c.671A>C	ENSP00000507758.1:p.Tyr224Ser
ENST00000683403.1:c.813+74A>C	ENSP00000507896.1:n.813+74A>C
ENST00000683429.1:c.494A>C	ENSP00000507697.1:p.Tyr165Ser
ENST00000683665.1:c.887A>C	ENSP00000507068.1:p.Tyr296Ser
ENST00000683789.1:c.773A>C	ENSP00000507012.1:p.Tyr258Ser
ENST00000683847.1:n.731A>C
ENST00000683882.1:c.887A>C	ENSP00000506735.1:p.Tyr296Ser
ENST00000684024.1:c.*558A>C	ENSP00000507175.1:n.*558A>C
ENST00000684254.1:c.*613A>C	ENSP00000508001.1:n.*613A>C
ENST00000684310.1:c.149A>C	ENSP00000507550.1:p.Tyr50Ser
ENST00000684530.1:c.149A>C	ENSP00000507439.1:p.Tyr50Ser
ENST00000684652.1:n.1889A>C
ENST00000340941.11:c.887A>C MANE Select	ENSP00000343657.6:p.Tyr296Ser
ENST00000340941.10:c.887A>C	ENSP00000343657.6:p.Tyr296Ser
ENST00000505435.3:n.238A>C
ENST00000505787.7:n.701A>C
ENST00000509358.6:c.887A>C	ENSP00000420994.2:p.Tyr296Ser
ENST00000509539.2:c.212A>C	ENSP00000425474.2:p.Tyr71Ser
ENST00000510895.6:n.501A>C
ENST00000512218.6:c.773A>C	ENSP00000423202.2:p.Tyr258Ser
ENST00000629193.2:c.773A>C	ENSP00000486535.1:p.Tyr258Ser
NM_022132.4:c.887A>C	NP_071415.1:p.Tyr296Ser
XM_005248567.1:c.773A>C	XP_005248624.1:p.Tyr258Ser
XM_011543528.1:c.887A>C	XP_011541830.1:p.Tyr296Ser
XM_011543529.1:c.887A>C	XP_011541831.1:p.Tyr296Ser
NM_001363147.1:c.773A>C	NP_001350076.1:p.Tyr258Ser
XM_011543529.2:c.887A>C	XP_011541831.1:p.Tyr296Ser
XM_017009688.1:c.887A>C	XP_016865177.1:p.Tyr296Ser
XR_001742172.1:n.927A>C
NM_022132.5:c.887A>C MANE Select	NP_071415.1:p.Tyr296Ser