Canonical Allele Identifier: CA560314525

Gene: MCCC2

Linked Data

• ClinVar Variation Id: 2421181
• ClinVar RCV Id: RCV003112841
• dbSNP Id: rs1285974220
• gnomAD v2: 5-70898323-T-C
• gnomAD v3: 5-71602496-T-C
• gnomAD v4: 5-71602496-T-C
• MyVariant Identifiers: chr5:g.70898323T>C (hg19) ; chr5:g.71602496T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71602496T>C , CM000667.2:g.71602496T>C	GRCh38
NC_000005.9:g.70898323T>C , CM000667.1:g.70898323T>C	GRCh37
NC_000005.8:g.70934079T>C	NCBI36
NG_008882.1:g.20209T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000505435.4:n.454-10T>C
ENST00000505787.8:n.2224-10T>C
ENST00000509358.7:c.384-10T>C	ENSP00000420994.3:n.384-10T>C
ENST00000510895.7:n.507-10T>C
ENST00000629193.3:c.384-10T>C	ENSP00000486535.2:n.384-10T>C
ENST00000681968.1:c.-10-10T>C	ENSP00000508143.1:n.-10-10T>C
ENST00000682045.1:c.240-10T>C	ENSP00000507329.1:n.240-10T>C
ENST00000682214.1:c.-10-10T>C	ENSP00000507336.1:n.-10-10T>C
ENST00000682499.1:n.1205-10T>C
ENST00000682541.1:c.384-10T>C	ENSP00000507673.1:n.384-10T>C
ENST00000682687.1:c.384-10T>C	ENSP00000507945.1:n.384-10T>C
ENST00000682727.1:c.384-10T>C	ENSP00000507393.1:n.384-10T>C
ENST00000682876.1:c.384-10T>C	ENSP00000508389.1:n.384-10T>C
ENST00000683098.1:c.384-10T>C	ENSP00000507670.1:n.384-10T>C
ENST00000683258.1:c.*110-15T>C	ENSP00000507448.1:n.*110-15T>C
ENST00000683339.1:c.282-10T>C	ENSP00000507758.1:n.282-10T>C
ENST00000683403.1:c.384-10T>C	ENSP00000507896.1:n.384-10T>C
ENST00000683429.1:c.-10-10T>C	ENSP00000507697.1:n.-10-10T>C
ENST00000683665.1:c.384-10T>C	ENSP00000507068.1:n.384-10T>C
ENST00000683789.1:c.384-10T>C	ENSP00000507012.1:n.384-10T>C
ENST00000683882.1:c.384-10T>C	ENSP00000506735.1:n.384-10T>C
ENST00000684024.1:c.*55-10T>C	ENSP00000507175.1:n.*55-10T>C
ENST00000684254.1:c.*110-10T>C	ENSP00000508001.1:n.*110-10T>C
ENST00000340941.11:c.384-10T>C MANE Select	ENSP00000343657.6:n.384-10T>C
ENST00000340941.10:c.384-10T>C	ENSP00000343657.6:n.384-10T>C
ENST00000505787.7:n.198-10T>C
ENST00000507169.5:n.310-10T>C
ENST00000509358.6:c.384-10T>C	ENSP00000420994.2:n.384-10T>C
ENST00000512218.6:c.384-10T>C	ENSP00000423202.2:n.384-10T>C
ENST00000629193.2:c.384-10T>C	ENSP00000486535.1:n.384-10T>C
NM_022132.4:c.384-10T>C	NP_071415.1:n.384-10T>C
XM_005248567.1:c.384-10T>C	XP_005248624.1:n.384-10T>C
XM_011543528.1:c.384-10T>C	XP_011541830.1:n.384-10T>C
XM_011543529.1:c.384-10T>C	XP_011541831.1:n.384-10T>C
NM_001363147.1:c.384-10T>C	NP_001350076.1:n.384-10T>C
XM_011543529.2:c.384-10T>C	XP_011541831.1:n.384-10T>C
XM_017009688.1:c.384-10T>C	XP_016865177.1:n.384-10T>C
XR_001742172.1:n.424-10T>C
NM_022132.5:c.384-10T>C MANE Select	NP_071415.1:n.384-10T>C