Canonical Allele Identifier: CA359986148

Gene: MCCC2

Linked Data

• ClinVar Variation Id: 499398
• ClinVar RCV Id: RCV000595406 ; RCV001060906 ; RCV001271400
• dbSNP Id: rs1199145486
• gnomAD v2: 5-70930781-T-G
• gnomAD v4: 5-71634954-T-G
• MyVariant Identifiers: chr5:g.70930781T>G (hg19) ; chr5:g.71634954T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71634954T>G , CM000667.2:g.71634954T>G	GRCh38
NC_000005.9:g.70930781T>G , CM000667.1:g.70930781T>G	GRCh37
NC_000005.8:g.70966537T>G	NCBI36
NG_008882.1:g.52667T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.771T>G
ENST00000505787.8:n.2655T>G
ENST00000509358.7:c.815T>G	ENSP00000420994.3:p.Val272Gly
ENST00000509539.3:c.77T>G	ENSP00000425474.3:p.Val26Gly
ENST00000510895.7:n.938T>G
ENST00000629193.3:c.701T>G	ENSP00000486535.2:p.Val234Gly
ENST00000681968.1:c.308T>G	ENSP00000508143.1:p.Val103Gly
ENST00000682045.1:c.671T>G	ENSP00000507329.1:p.Val224Gly
ENST00000682214.1:c.422T>G	ENSP00000507336.1:p.Val141Gly
ENST00000682499.1:n.1636T>G
ENST00000682541.1:c.815T>G	ENSP00000507673.1:p.Val272Gly
ENST00000682687.1:c.815T>G	ENSP00000507945.1:p.Val272Gly
ENST00000682727.1:c.815T>G	ENSP00000507393.1:p.Val272Gly
ENST00000682876.1:c.944T>G	ENSP00000508389.1:p.Val315Gly
ENST00000683098.1:c.803+2769T>G	ENSP00000507670.1:n.803+2769T>G
ENST00000683258.1:c.*536T>G	ENSP00000507448.1:n.*536T>G
ENST00000683339.1:c.599T>G	ENSP00000507758.1:p.Val200Gly
ENST00000683403.1:c.813+2T>G	ENSP00000507896.1:n.813+2T>G
ENST00000683429.1:c.422T>G	ENSP00000507697.1:p.Val141Gly
ENST00000683665.1:c.815T>G	ENSP00000507068.1:p.Val272Gly
ENST00000683789.1:c.701T>G	ENSP00000507012.1:p.Val234Gly
ENST00000683847.1:n.659T>G
ENST00000683882.1:c.815T>G	ENSP00000506735.1:p.Val272Gly
ENST00000684024.1:c.*486T>G	ENSP00000507175.1:n.*486T>G
ENST00000684254.1:c.*541T>G	ENSP00000508001.1:n.*541T>G
ENST00000684310.1:c.77T>G	ENSP00000507550.1:p.Val26Gly
ENST00000684530.1:c.77T>G	ENSP00000507439.1:p.Val26Gly
ENST00000684652.1:n.1817T>G
ENST00000340941.11:c.815T>G MANE Select	ENSP00000343657.6:p.Val272Gly
ENST00000340941.10:c.815T>G	ENSP00000343657.6:p.Val272Gly
ENST00000505435.3:n.166T>G
ENST00000505787.7:n.629T>G
ENST00000509358.6:c.815T>G	ENSP00000420994.2:p.Val272Gly
ENST00000509539.2:c.140T>G	ENSP00000425474.2:p.Val47Gly
ENST00000510895.6:n.429T>G
ENST00000512218.6:c.701T>G	ENSP00000423202.2:p.Val234Gly
ENST00000629193.2:c.701T>G	ENSP00000486535.1:p.Val234Gly
NM_022132.4:c.815T>G	NP_071415.1:p.Val272Gly
XM_005248567.1:c.701T>G	XP_005248624.1:p.Val234Gly
XM_011543528.1:c.815T>G	XP_011541830.1:p.Val272Gly
XM_011543529.1:c.815T>G	XP_011541831.1:p.Val272Gly
NM_001363147.1:c.701T>G	NP_001350076.1:p.Val234Gly
XM_011543529.2:c.815T>G	XP_011541831.1:p.Val272Gly
XM_017009688.1:c.815T>G	XP_016865177.1:p.Val272Gly
XR_001742172.1:n.855T>G
NM_022132.5:c.815T>G MANE Select	NP_071415.1:p.Val272Gly