Canonical Allele Identifier: CA119992634

Gene: MCCC2

Linked Data

• dbSNP Id: rs746451536
• gnomAD v2: 5-70931025-G-A
• gnomAD v4: 5-71635198-G-A
• MyVariant Identifiers: chr5:g.70931025G>A (hg19) ; chr5:g.71635198G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635198G>A , CM000667.2:g.71635198G>A	GRCh38
NC_000005.9:g.70931025G>A , CM000667.1:g.70931025G>A	GRCh37
NC_000005.8:g.70966781G>A	NCBI36
NG_008882.1:g.52911G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.907G>A
ENST00000505787.8:n.2791G>A
ENST00000509358.7:c.951G>A	ENSP00000420994.3:p.Leu317=
ENST00000509539.3:c.213G>A	ENSP00000425474.3:p.Leu71=
ENST00000510895.7:n.1074G>A
ENST00000629193.3:c.837G>A	ENSP00000486535.2:p.Leu279=
ENST00000681968.1:c.444G>A	ENSP00000508143.1:p.Leu148=
ENST00000682045.1:c.807G>A	ENSP00000507329.1:p.Leu269=
ENST00000682214.1:c.558G>A	ENSP00000507336.1:p.Leu186=
ENST00000682499.1:n.1772G>A
ENST00000682541.1:c.951G>A	ENSP00000507673.1:p.Leu317=
ENST00000682687.1:c.951G>A	ENSP00000507945.1:p.Leu317=
ENST00000682727.1:c.951G>A	ENSP00000507393.1:p.Leu317=
ENST00000682876.1:c.1080G>A	ENSP00000508389.1:p.Leu360=
ENST00000683098.1:c.803+3013G>A	ENSP00000507670.1:n.803+3013G>A
ENST00000683258.1:c.*672G>A	ENSP00000507448.1:n.*672G>A
ENST00000683339.1:c.735G>A	ENSP00000507758.1:p.Leu245=
ENST00000683403.1:c.861G>A	ENSP00000507896.1:p.Leu287=
ENST00000683429.1:c.558G>A	ENSP00000507697.1:p.Leu186=
ENST00000683665.1:c.951G>A	ENSP00000507068.1:p.Leu317=
ENST00000683789.1:c.837G>A	ENSP00000507012.1:p.Leu279=
ENST00000683847.1:n.795G>A
ENST00000683882.1:c.951G>A	ENSP00000506735.1:p.Leu317=
ENST00000684024.1:c.*622G>A	ENSP00000507175.1:n.*622G>A
ENST00000684254.1:c.*677G>A	ENSP00000508001.1:n.*677G>A
ENST00000684310.1:c.165+156G>A	ENSP00000507550.1:n.165+156G>A
ENST00000684530.1:c.213G>A	ENSP00000507439.1:p.Leu71=
ENST00000684652.1:n.1953G>A
ENST00000340941.11:c.951G>A MANE Select	ENSP00000343657.6:p.Leu317=
ENST00000340941.10:c.951G>A	ENSP00000343657.6:p.Leu317=
ENST00000505435.3:n.302G>A
ENST00000509358.6:c.951G>A	ENSP00000420994.2:p.Leu317=
ENST00000509539.2:c.276G>A	ENSP00000425474.2:p.Leu92=
ENST00000510895.6:n.565G>A
ENST00000512218.6:c.837G>A	ENSP00000423202.2:p.Leu279=
ENST00000629193.2:c.837G>A	ENSP00000486535.1:p.Leu279=
NM_022132.4:c.951G>A	NP_071415.1:p.Leu317=
XM_005248567.1:c.837G>A	XP_005248624.1:p.Leu279=
XM_011543528.1:c.951G>A	XP_011541830.1:p.Leu317=
XM_011543529.1:c.951G>A	XP_011541831.1:p.Leu317=
NM_001363147.1:c.837G>A	NP_001350076.1:p.Leu279=
XM_011543529.2:c.951G>A	XP_011541831.1:p.Leu317=
XM_017009688.1:c.951G>A	XP_016865177.1:p.Leu317=
XR_001742172.1:n.991G>A
NM_022132.5:c.951G>A MANE Select	NP_071415.1:p.Leu317=