Canonical Allele Identifier: CA119992444

Gene: MCCC2

Linked Data

• ClinVar Variation Id: 2433669
• ClinVar RCV Id: RCV003131560
• dbSNP Id: rs1025436330
• gnomAD v4: 5-71634987-C-T
• MyVariant Identifiers: chr5:g.70930814C>T (hg19) ; chr5:g.71634987C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71634987C>T , CM000667.2:g.71634987C>T	GRCh38
NC_000005.9:g.70930814C>T , CM000667.1:g.70930814C>T	GRCh37
NC_000005.8:g.70966570C>T	NCBI36
NG_008882.1:g.52700C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000505435.4:n.804C>T
ENST00000505787.8:n.2688C>T
ENST00000509358.7:c.848C>T	ENSP00000420994.3:p.Ala283Val
ENST00000509539.3:c.110C>T	ENSP00000425474.3:p.Ala37Val
ENST00000510895.7:n.971C>T
ENST00000629193.3:c.734C>T	ENSP00000486535.2:p.Ala245Val
ENST00000681968.1:c.341C>T	ENSP00000508143.1:p.Ala114Val
ENST00000682045.1:c.704C>T	ENSP00000507329.1:p.Ala235Val
ENST00000682214.1:c.455C>T	ENSP00000507336.1:p.Ala152Val
ENST00000682499.1:n.1669C>T
ENST00000682541.1:c.848C>T	ENSP00000507673.1:p.Ala283Val
ENST00000682687.1:c.848C>T	ENSP00000507945.1:p.Ala283Val
ENST00000682727.1:c.848C>T	ENSP00000507393.1:p.Ala283Val
ENST00000682876.1:c.977C>T	ENSP00000508389.1:p.Ala326Val
ENST00000683098.1:c.803+2802C>T	ENSP00000507670.1:n.803+2802C>T
ENST00000683258.1:c.*569C>T	ENSP00000507448.1:n.*569C>T
ENST00000683339.1:c.632C>T	ENSP00000507758.1:p.Ala211Val
ENST00000683403.1:c.813+35C>T	ENSP00000507896.1:n.813+35C>T
ENST00000683429.1:c.455C>T	ENSP00000507697.1:p.Ala152Val
ENST00000683665.1:c.848C>T	ENSP00000507068.1:p.Ala283Val
ENST00000683789.1:c.734C>T	ENSP00000507012.1:p.Ala245Val
ENST00000683847.1:n.692C>T
ENST00000683882.1:c.848C>T	ENSP00000506735.1:p.Ala283Val
ENST00000684024.1:c.*519C>T	ENSP00000507175.1:n.*519C>T
ENST00000684254.1:c.*574C>T	ENSP00000508001.1:n.*574C>T
ENST00000684310.1:c.110C>T	ENSP00000507550.1:p.Ala37Val
ENST00000684530.1:c.110C>T	ENSP00000507439.1:p.Ala37Val
ENST00000684652.1:n.1850C>T
ENST00000340941.11:c.848C>T MANE Select	ENSP00000343657.6:p.Ala283Val
ENST00000340941.10:c.848C>T	ENSP00000343657.6:p.Ala283Val
ENST00000505435.3:n.199C>T
ENST00000505787.7:n.662C>T
ENST00000509358.6:c.848C>T	ENSP00000420994.2:p.Ala283Val
ENST00000509539.2:c.173C>T	ENSP00000425474.2:p.Ala58Val
ENST00000510895.6:n.462C>T
ENST00000512218.6:c.734C>T	ENSP00000423202.2:p.Ala245Val
ENST00000629193.2:c.734C>T	ENSP00000486535.1:p.Ala245Val
NM_022132.4:c.848C>T	NP_071415.1:p.Ala283Val
XM_005248567.1:c.734C>T	XP_005248624.1:p.Ala245Val
XM_011543528.1:c.848C>T	XP_011541830.1:p.Ala283Val
XM_011543529.1:c.848C>T	XP_011541831.1:p.Ala283Val
NM_001363147.1:c.734C>T	NP_001350076.1:p.Ala245Val
XM_011543529.2:c.848C>T	XP_011541831.1:p.Ala283Val
XM_017009688.1:c.848C>T	XP_016865177.1:p.Ala283Val
XR_001742172.1:n.888C>T
NM_022132.5:c.848C>T MANE Select	NP_071415.1:p.Ala283Val