Canonical Allele Identifier: CA359986512

Gene: MCCC2

Linked Data

• dbSNP Id: rs1212317951
• gnomAD v2: 5-70930807-C-T
• gnomAD v4: 5-71634980-C-T
• MyVariant Identifiers: chr5:g.70930807C>T (hg19) ; chr5:g.71634980C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71634980C>T , CM000667.2:g.71634980C>T	GRCh38
NC_000005.9:g.70930807C>T , CM000667.1:g.70930807C>T	GRCh37
NC_000005.8:g.70966563C>T	NCBI36
NG_008882.1:g.52693C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.797C>T
ENST00000505787.8:n.2681C>T
ENST00000509358.7:c.841C>T	ENSP00000420994.3:p.His281Tyr
ENST00000509539.3:c.103C>T	ENSP00000425474.3:p.His35Tyr
ENST00000510895.7:n.964C>T
ENST00000629193.3:c.727C>T	ENSP00000486535.2:p.His243Tyr
ENST00000681968.1:c.334C>T	ENSP00000508143.1:p.His112Tyr
ENST00000682045.1:c.697C>T	ENSP00000507329.1:p.His233Tyr
ENST00000682214.1:c.448C>T	ENSP00000507336.1:p.His150Tyr
ENST00000682499.1:n.1662C>T
ENST00000682541.1:c.841C>T	ENSP00000507673.1:p.His281Tyr
ENST00000682687.1:c.841C>T	ENSP00000507945.1:p.His281Tyr
ENST00000682727.1:c.841C>T	ENSP00000507393.1:p.His281Tyr
ENST00000682876.1:c.970C>T	ENSP00000508389.1:p.His324Tyr
ENST00000683098.1:c.803+2795C>T	ENSP00000507670.1:n.803+2795C>T
ENST00000683258.1:c.*562C>T	ENSP00000507448.1:n.*562C>T
ENST00000683339.1:c.625C>T	ENSP00000507758.1:p.His209Tyr
ENST00000683403.1:c.813+28C>T	ENSP00000507896.1:n.813+28C>T
ENST00000683429.1:c.448C>T	ENSP00000507697.1:p.His150Tyr
ENST00000683665.1:c.841C>T	ENSP00000507068.1:p.His281Tyr
ENST00000683789.1:c.727C>T	ENSP00000507012.1:p.His243Tyr
ENST00000683847.1:n.685C>T
ENST00000683882.1:c.841C>T	ENSP00000506735.1:p.His281Tyr
ENST00000684024.1:c.*512C>T	ENSP00000507175.1:n.*512C>T
ENST00000684254.1:c.*567C>T	ENSP00000508001.1:n.*567C>T
ENST00000684310.1:c.103C>T	ENSP00000507550.1:p.His35Tyr
ENST00000684530.1:c.103C>T	ENSP00000507439.1:p.His35Tyr
ENST00000684652.1:n.1843C>T
ENST00000340941.11:c.841C>T MANE Select	ENSP00000343657.6:p.His281Tyr
ENST00000340941.10:c.841C>T	ENSP00000343657.6:p.His281Tyr
ENST00000505435.3:n.192C>T
ENST00000505787.7:n.655C>T
ENST00000509358.6:c.841C>T	ENSP00000420994.2:p.His281Tyr
ENST00000509539.2:c.166C>T	ENSP00000425474.2:p.His56Tyr
ENST00000510895.6:n.455C>T
ENST00000512218.6:c.727C>T	ENSP00000423202.2:p.His243Tyr
ENST00000629193.2:c.727C>T	ENSP00000486535.1:p.His243Tyr
NM_022132.4:c.841C>T	NP_071415.1:p.His281Tyr
XM_005248567.1:c.727C>T	XP_005248624.1:p.His243Tyr
XM_011543528.1:c.841C>T	XP_011541830.1:p.His281Tyr
XM_011543529.1:c.841C>T	XP_011541831.1:p.His281Tyr
NM_001363147.1:c.727C>T	NP_001350076.1:p.His243Tyr
XM_011543529.2:c.841C>T	XP_011541831.1:p.His281Tyr
XM_017009688.1:c.841C>T	XP_016865177.1:p.His281Tyr
XR_001742172.1:n.881C>T
NM_022132.5:c.841C>T MANE Select	NP_071415.1:p.His281Tyr