Canonical Allele Identifier: CA360010139

Gene: MCCC2

Linked Data

• ClinVar Variation Id: 991028
• ClinVar RCV Id: RCV001279165
• dbSNP Id: rs1214498152
• gnomAD v2: 5-70898334-G-A
• gnomAD v3: 5-71602507-G-A
• gnomAD v4: 5-71602507-G-A
• MyVariant Identifiers: chr5:g.70898334G>A (hg19) ; chr5:g.71602507G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71602507G>A , CM000667.2:g.71602507G>A	GRCh38
NC_000005.9:g.70898334G>A , CM000667.1:g.70898334G>A	GRCh37
NC_000005.8:g.70934090G>A	NCBI36
NG_008882.1:g.20220G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000505435.4:n.455G>A
ENST00000505787.8:n.2225G>A
ENST00000509358.7:c.385G>A	ENSP00000420994.3:p.Val129Ile
ENST00000510895.7:n.508G>A
ENST00000629193.3:c.385G>A	ENSP00000486535.2:p.Val129Ile
ENST00000681968.1:c.-9G>A	ENSP00000508143.1:n.-9G>A
ENST00000682045.1:c.241G>A	ENSP00000507329.1:p.Val81Ile
ENST00000682214.1:c.-9G>A	ENSP00000507336.1:n.-9G>A
ENST00000682499.1:n.1206G>A
ENST00000682541.1:c.385G>A	ENSP00000507673.1:p.Val129Ile
ENST00000682687.1:c.385G>A	ENSP00000507945.1:p.Val129Ile
ENST00000682727.1:c.385G>A	ENSP00000507393.1:p.Val129Ile
ENST00000682876.1:c.385G>A	ENSP00000508389.1:p.Val129Ile
ENST00000683098.1:c.385G>A	ENSP00000507670.1:p.Val129Ile
ENST00000683258.1:c.*110-4G>A	ENSP00000507448.1:n.*110-4G>A
ENST00000683339.1:c.283G>A	ENSP00000507758.1:p.Val95Ile
ENST00000683403.1:c.385G>A	ENSP00000507896.1:p.Val129Ile
ENST00000683429.1:c.-9G>A	ENSP00000507697.1:n.-9G>A
ENST00000683665.1:c.385G>A	ENSP00000507068.1:p.Val129Ile
ENST00000683789.1:c.385G>A	ENSP00000507012.1:p.Val129Ile
ENST00000683882.1:c.385G>A	ENSP00000506735.1:p.Val129Ile
ENST00000684024.1:c.*56G>A	ENSP00000507175.1:n.*56G>A
ENST00000684254.1:c.*111G>A	ENSP00000508001.1:n.*111G>A
ENST00000340941.11:c.385G>A MANE Select	ENSP00000343657.6:p.Val129Ile
ENST00000340941.10:c.385G>A	ENSP00000343657.6:p.Val129Ile
ENST00000505787.7:n.199G>A
ENST00000507169.5:n.311G>A
ENST00000509358.6:c.385G>A	ENSP00000420994.2:p.Val129Ile
ENST00000512218.6:c.385G>A	ENSP00000423202.2:p.Val129Ile
ENST00000629193.2:c.385G>A	ENSP00000486535.1:p.Val129Ile
NM_022132.4:c.385G>A	NP_071415.1:p.Val129Ile
XM_005248567.1:c.385G>A	XP_005248624.1:p.Val129Ile
XM_011543528.1:c.385G>A	XP_011541830.1:p.Val129Ile
XM_011543529.1:c.385G>A	XP_011541831.1:p.Val129Ile
NM_001363147.1:c.385G>A	NP_001350076.1:p.Val129Ile
XM_011543529.2:c.385G>A	XP_011541831.1:p.Val129Ile
XM_017009688.1:c.385G>A	XP_016865177.1:p.Val129Ile
XR_001742172.1:n.425G>A
NM_022132.5:c.385G>A MANE Select	NP_071415.1:p.Val129Ile