Canonical Allele Identifier: CA3297905

Gene: MCCC2

Linked Data

• ClinVar Variation Id: 1061496
• ClinVar RCV Id: RCV001371087
• dbSNP Id: rs376237028
• ExAC: 5:70930817 T / C
• gnomAD v2: 5-70930817-T-C
• gnomAD v3: 5-71634990-T-C
• gnomAD v4: 5-71634990-T-C
• MyVariant Identifiers: chr5:g.70930817T>C (hg19) ; chr5:g.71634990T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71634990T>C , CM000667.2:g.71634990T>C	GRCh38
NC_000005.9:g.70930817T>C , CM000667.1:g.70930817T>C	GRCh37
NC_000005.8:g.70966573T>C	NCBI36
NG_008882.1:g.52703T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000505435.4:n.807T>C
ENST00000505787.8:n.2691T>C
ENST00000509358.7:c.851T>C	ENSP00000420994.3:p.Leu284Pro
ENST00000509539.3:c.113T>C	ENSP00000425474.3:p.Leu38Pro
ENST00000510895.7:n.974T>C
ENST00000629193.3:c.737T>C	ENSP00000486535.2:p.Leu246Pro
ENST00000681968.1:c.344T>C	ENSP00000508143.1:p.Leu115Pro
ENST00000682045.1:c.707T>C	ENSP00000507329.1:p.Leu236Pro
ENST00000682214.1:c.458T>C	ENSP00000507336.1:p.Leu153Pro
ENST00000682499.1:n.1672T>C
ENST00000682541.1:c.851T>C	ENSP00000507673.1:p.Leu284Pro
ENST00000682687.1:c.851T>C	ENSP00000507945.1:p.Leu284Pro
ENST00000682727.1:c.851T>C	ENSP00000507393.1:p.Leu284Pro
ENST00000682876.1:c.980T>C	ENSP00000508389.1:p.Leu327Pro
ENST00000683098.1:c.803+2805T>C	ENSP00000507670.1:n.803+2805T>C
ENST00000683258.1:c.*572T>C	ENSP00000507448.1:n.*572T>C
ENST00000683339.1:c.635T>C	ENSP00000507758.1:p.Leu212Pro
ENST00000683403.1:c.813+38T>C	ENSP00000507896.1:n.813+38T>C
ENST00000683429.1:c.458T>C	ENSP00000507697.1:p.Leu153Pro
ENST00000683665.1:c.851T>C	ENSP00000507068.1:p.Leu284Pro
ENST00000683789.1:c.737T>C	ENSP00000507012.1:p.Leu246Pro
ENST00000683847.1:n.695T>C
ENST00000683882.1:c.851T>C	ENSP00000506735.1:p.Leu284Pro
ENST00000684024.1:c.*522T>C	ENSP00000507175.1:n.*522T>C
ENST00000684254.1:c.*577T>C	ENSP00000508001.1:n.*577T>C
ENST00000684310.1:c.113T>C	ENSP00000507550.1:p.Leu38Pro
ENST00000684530.1:c.113T>C	ENSP00000507439.1:p.Leu38Pro
ENST00000684652.1:n.1853T>C
ENST00000340941.11:c.851T>C MANE Select	ENSP00000343657.6:p.Leu284Pro
ENST00000340941.10:c.851T>C	ENSP00000343657.6:p.Leu284Pro
ENST00000505435.3:n.202T>C
ENST00000505787.7:n.665T>C
ENST00000509358.6:c.851T>C	ENSP00000420994.2:p.Leu284Pro
ENST00000509539.2:c.176T>C	ENSP00000425474.2:p.Leu59Pro
ENST00000510895.6:n.465T>C
ENST00000512218.6:c.737T>C	ENSP00000423202.2:p.Leu246Pro
ENST00000629193.2:c.737T>C	ENSP00000486535.1:p.Leu246Pro
NM_022132.4:c.851T>C	NP_071415.1:p.Leu284Pro
XM_005248567.1:c.737T>C	XP_005248624.1:p.Leu246Pro
XM_011543528.1:c.851T>C	XP_011541830.1:p.Leu284Pro
XM_011543529.1:c.851T>C	XP_011541831.1:p.Leu284Pro
NM_001363147.1:c.737T>C	NP_001350076.1:p.Leu246Pro
XM_011543529.2:c.851T>C	XP_011541831.1:p.Leu284Pro
XM_017009688.1:c.851T>C	XP_016865177.1:p.Leu284Pro
XR_001742172.1:n.891T>C
NM_022132.5:c.851T>C MANE Select	NP_071415.1:p.Leu284Pro