Canonical Allele Identifier: CA359987709

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70931035G>C (hg19) ; chr5:g.71635208G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635208G>C , CM000667.2:g.71635208G>C	GRCh38
NC_000005.9:g.70931035G>C , CM000667.1:g.70931035G>C	GRCh37
NC_000005.8:g.70966791G>C	NCBI36
NG_008882.1:g.52921G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.917G>C
ENST00000505787.8:n.2801G>C
ENST00000509358.7:c.961G>C	ENSP00000420994.3:p.Val321Leu
ENST00000509539.3:c.223G>C	ENSP00000425474.3:p.Val75Leu
ENST00000510895.7:n.1084G>C
ENST00000629193.3:c.847G>C	ENSP00000486535.2:p.Val283Leu
ENST00000681968.1:c.454G>C	ENSP00000508143.1:p.Val152Leu
ENST00000682045.1:c.817G>C	ENSP00000507329.1:p.Val273Leu
ENST00000682214.1:c.568G>C	ENSP00000507336.1:p.Val190Leu
ENST00000682499.1:n.1782G>C
ENST00000682541.1:c.961G>C	ENSP00000507673.1:p.Val321Leu
ENST00000682687.1:c.961G>C	ENSP00000507945.1:p.Val321Leu
ENST00000682727.1:c.961G>C	ENSP00000507393.1:p.Val321Leu
ENST00000682876.1:c.1090G>C	ENSP00000508389.1:p.Val364Leu
ENST00000683098.1:c.803+3023G>C	ENSP00000507670.1:n.803+3023G>C
ENST00000683258.1:c.*682G>C	ENSP00000507448.1:n.*682G>C
ENST00000683339.1:c.745G>C	ENSP00000507758.1:p.Val249Leu
ENST00000683403.1:c.871G>C	ENSP00000507896.1:p.Val291Leu
ENST00000683429.1:c.568G>C	ENSP00000507697.1:p.Val190Leu
ENST00000683665.1:c.961G>C	ENSP00000507068.1:p.Val321Leu
ENST00000683789.1:c.847G>C	ENSP00000507012.1:p.Val283Leu
ENST00000683847.1:n.805G>C
ENST00000683882.1:c.961G>C	ENSP00000506735.1:p.Val321Leu
ENST00000684024.1:c.*632G>C	ENSP00000507175.1:n.*632G>C
ENST00000684254.1:c.*687G>C	ENSP00000508001.1:n.*687G>C
ENST00000684310.1:c.165+166G>C	ENSP00000507550.1:n.165+166G>C
ENST00000684530.1:c.223G>C	ENSP00000507439.1:p.Val75Leu
ENST00000684652.1:n.1963G>C
ENST00000340941.11:c.961G>C MANE Select	ENSP00000343657.6:p.Val321Leu
ENST00000340941.10:c.961G>C	ENSP00000343657.6:p.Val321Leu
ENST00000505435.3:n.312G>C
ENST00000509358.6:c.961G>C	ENSP00000420994.2:p.Val321Leu
ENST00000509539.2:c.286G>C	ENSP00000425474.2:p.Val96Leu
ENST00000510895.6:n.575G>C
ENST00000512218.6:c.847G>C	ENSP00000423202.2:p.Val283Leu
ENST00000629193.2:c.847G>C	ENSP00000486535.1:p.Val283Leu
NM_022132.4:c.961G>C	NP_071415.1:p.Val321Leu
XM_005248567.1:c.847G>C	XP_005248624.1:p.Val283Leu
XM_011543528.1:c.961G>C	XP_011541830.1:p.Val321Leu
XM_011543529.1:c.961G>C	XP_011541831.1:p.Val321Leu
NM_001363147.1:c.847G>C	NP_001350076.1:p.Val283Leu
XM_011543529.2:c.961G>C	XP_011541831.1:p.Val321Leu
XM_017009688.1:c.961G>C	XP_016865177.1:p.Val321Leu
XR_001742172.1:n.1001G>C
NM_022132.5:c.961G>C MANE Select	NP_071415.1:p.Val321Leu