Canonical Allele Identifier: CA3297785

Gene: MCCC2

Linked Data

• ClinVar Variation Id: 1982832
• ClinVar RCV Id: RCV002766894
• dbSNP Id: rs781129100
• ExAC: 5:70898417 C / T
• gnomAD v2: 5-70898417-C-T
• gnomAD v4: 5-71602590-C-T
• MyVariant Identifiers: chr5:g.70898417C>T (hg19) ; chr5:g.71602590C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71602590C>T , CM000667.2:g.71602590C>T	GRCh38
NC_000005.9:g.70898417C>T , CM000667.1:g.70898417C>T	GRCh37
NC_000005.8:g.70934173C>T	NCBI36
NG_008882.1:g.20303C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000505435.4:n.538C>T
ENST00000505787.8:n.2308C>T
ENST00000509358.7:c.468C>T	ENSP00000420994.3:p.Ala156=
ENST00000510895.7:n.591C>T
ENST00000629193.3:c.468C>T	ENSP00000486535.2:p.Ala156=
ENST00000681968.1:c.75C>T	ENSP00000508143.1:p.Ala25=
ENST00000682045.1:c.324C>T	ENSP00000507329.1:p.Ala108=
ENST00000682214.1:c.75C>T	ENSP00000507336.1:p.Ala25=
ENST00000682499.1:n.1289C>T
ENST00000682541.1:c.468C>T	ENSP00000507673.1:p.Ala156=
ENST00000682687.1:c.468C>T	ENSP00000507945.1:p.Ala156=
ENST00000682727.1:c.468C>T	ENSP00000507393.1:p.Ala156=
ENST00000682876.1:c.468C>T	ENSP00000508389.1:p.Ala156=
ENST00000683098.1:c.468C>T	ENSP00000507670.1:p.Ala156=
ENST00000683258.1:c.*189C>T	ENSP00000507448.1:n.*189C>T
ENST00000683339.1:c.366C>T	ENSP00000507758.1:p.Ala122=
ENST00000683403.1:c.468C>T	ENSP00000507896.1:p.Ala156=
ENST00000683429.1:c.75C>T	ENSP00000507697.1:p.Ala25=
ENST00000683665.1:c.468C>T	ENSP00000507068.1:p.Ala156=
ENST00000683789.1:c.468C>T	ENSP00000507012.1:p.Ala156=
ENST00000683882.1:c.468C>T	ENSP00000506735.1:p.Ala156=
ENST00000684024.1:c.*139C>T	ENSP00000507175.1:n.*139C>T
ENST00000684254.1:c.*194C>T	ENSP00000508001.1:n.*194C>T
ENST00000340941.11:c.468C>T MANE Select	ENSP00000343657.6:p.Ala156=
ENST00000340941.10:c.468C>T	ENSP00000343657.6:p.Ala156=
ENST00000505787.7:n.282C>T
ENST00000507169.5:n.394C>T
ENST00000509358.6:c.468C>T	ENSP00000420994.2:p.Ala156=
ENST00000510895.6:n.82C>T
ENST00000512218.6:c.468C>T	ENSP00000423202.2:p.Ala156=
ENST00000629193.2:c.468C>T	ENSP00000486535.1:p.Ala156=
NM_022132.4:c.468C>T	NP_071415.1:p.Ala156=
XM_005248567.1:c.468C>T	XP_005248624.1:p.Ala156=
XM_011543528.1:c.468C>T	XP_011541830.1:p.Ala156=
XM_011543529.1:c.468C>T	XP_011541831.1:p.Ala156=
NM_001363147.1:c.468C>T	NP_001350076.1:p.Ala156=
XM_011543529.2:c.468C>T	XP_011541831.1:p.Ala156=
XM_017009688.1:c.468C>T	XP_016865177.1:p.Ala156=
XR_001742172.1:n.508C>T
NM_022132.5:c.468C>T MANE Select	NP_071415.1:p.Ala156=