Canonical Allele Identifier: CA251973
Gene: MCCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1927
ClinVar RCV Id: RCV000002004
dbSNP Id: rs119103226
gnomAD v2: 5-70930804-G-T
gnomAD v3: 5-71634977-G-T
gnomAD v4: 5-71634977-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71634977G>T , CM000667.2:g.71634977G>T GRCh38
NC_000005.9:g.70930804G>T , CM000667.1:g.70930804G>T GRCh37
NC_000005.8:g.70966560G>T NCBI36
NG_008882.1:g.52690G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000505435.4:n.794G>T
ENST00000505787.8:n.2678G>T
ENST00000509358.7:c.838G>T ENSP00000420994.3:p.Asp280Tyr
ENST00000509539.3:c.100G>T ENSP00000425474.3:p.Asp34Tyr
ENST00000510895.7:n.961G>T
ENST00000629193.3:c.724G>T ENSP00000486535.2:p.Asp242Tyr
ENST00000681968.1:c.331G>T ENSP00000508143.1:p.Asp111Tyr
ENST00000682045.1:c.694G>T ENSP00000507329.1:p.Asp232Tyr
ENST00000682214.1:c.445G>T ENSP00000507336.1:p.Asp149Tyr
ENST00000682499.1:n.1659G>T
ENST00000682541.1:c.838G>T ENSP00000507673.1:p.Asp280Tyr
ENST00000682687.1:c.838G>T ENSP00000507945.1:p.Asp280Tyr
ENST00000682727.1:c.838G>T ENSP00000507393.1:p.Asp280Tyr
ENST00000682876.1:c.967G>T ENSP00000508389.1:p.Asp323Tyr
ENST00000683098.1:c.803+2792G>T ENSP00000507670.1:n.803+2792G>T
ENST00000683258.1:c.*559G>T ENSP00000507448.1:n.*559G>T
ENST00000683339.1:c.622G>T ENSP00000507758.1:p.Asp208Tyr
ENST00000683403.1:c.813+25G>T ENSP00000507896.1:n.813+25G>T
ENST00000683429.1:c.445G>T ENSP00000507697.1:p.Asp149Tyr
ENST00000683665.1:c.838G>T ENSP00000507068.1:p.Asp280Tyr
ENST00000683789.1:c.724G>T ENSP00000507012.1:p.Asp242Tyr
ENST00000683847.1:n.682G>T
ENST00000683882.1:c.838G>T ENSP00000506735.1:p.Asp280Tyr
ENST00000684024.1:c.*509G>T ENSP00000507175.1:n.*509G>T
ENST00000684254.1:c.*564G>T ENSP00000508001.1:n.*564G>T
ENST00000684310.1:c.100G>T ENSP00000507550.1:p.Asp34Tyr
ENST00000684530.1:c.100G>T ENSP00000507439.1:p.Asp34Tyr
ENST00000684652.1:n.1840G>T
ENST00000340941.11:c.838G>T MANE Select ENSP00000343657.6:p.Asp280Tyr
ENST00000340941.10:c.838G>T ENSP00000343657.6:p.Asp280Tyr
ENST00000505435.3:n.189G>T
ENST00000505787.7:n.652G>T
ENST00000509358.6:c.838G>T ENSP00000420994.2:p.Asp280Tyr
ENST00000509539.2:c.163G>T ENSP00000425474.2:p.Asp55Tyr
ENST00000510895.6:n.452G>T
ENST00000512218.6:c.724G>T ENSP00000423202.2:p.Asp242Tyr
ENST00000629193.2:c.724G>T ENSP00000486535.1:p.Asp242Tyr
NM_022132.4:c.838G>T NP_071415.1:p.Asp280Tyr
XM_005248567.1:c.724G>T XP_005248624.1:p.Asp242Tyr
XM_011543528.1:c.838G>T XP_011541830.1:p.Asp280Tyr
XM_011543529.1:c.838G>T XP_011541831.1:p.Asp280Tyr
NM_001363147.1:c.724G>T NP_001350076.1:p.Asp242Tyr
XM_011543529.2:c.838G>T XP_011541831.1:p.Asp280Tyr
XM_017009688.1:c.838G>T XP_016865177.1:p.Asp280Tyr
XR_001742172.1:n.878G>T
NM_022132.5:c.838G>T MANE Select NP_071415.1:p.Asp280Tyr