Canonical Allele Identifier: CA1554387760

Gene: MCCC2

Linked Data

• dbSNP Id: rs1746871419
• gnomAD v4: 5-71635097-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635097C>G , CM000667.2:g.71635097C>G	GRCh38
NC_000005.9:g.70930924C>G , CM000667.1:g.70930924C>G	GRCh37
NC_000005.8:g.70966680C>G	NCBI36
NG_008882.1:g.52810C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000505435.4:n.860-54C>G
ENST00000505787.8:n.2744-54C>G
ENST00000509358.7:c.904-54C>G	ENSP00000420994.3:n.904-54C>G
ENST00000509539.3:c.166-54C>G	ENSP00000425474.3:n.166-54C>G
ENST00000510895.7:n.1027-54C>G
ENST00000629193.3:c.790-54C>G	ENSP00000486535.2:n.790-54C>G
ENST00000681968.1:c.397-54C>G	ENSP00000508143.1:n.397-54C>G
ENST00000682045.1:c.760-54C>G	ENSP00000507329.1:n.760-54C>G
ENST00000682214.1:c.511-54C>G	ENSP00000507336.1:n.511-54C>G
ENST00000682499.1:n.1725-54C>G
ENST00000682541.1:c.904-54C>G	ENSP00000507673.1:n.904-54C>G
ENST00000682687.1:c.904-54C>G	ENSP00000507945.1:n.904-54C>G
ENST00000682727.1:c.904-54C>G	ENSP00000507393.1:n.904-54C>G
ENST00000682876.1:c.1033-54C>G	ENSP00000508389.1:n.1033-54C>G
ENST00000683098.1:c.803+2912C>G	ENSP00000507670.1:n.803+2912C>G
ENST00000683258.1:c.*625-54C>G	ENSP00000507448.1:n.*625-54C>G
ENST00000683339.1:c.688-54C>G	ENSP00000507758.1:n.688-54C>G
ENST00000683403.1:c.814-54C>G	ENSP00000507896.1:n.814-54C>G
ENST00000683429.1:c.511-54C>G	ENSP00000507697.1:n.511-54C>G
ENST00000683665.1:c.904-54C>G	ENSP00000507068.1:n.904-54C>G
ENST00000683789.1:c.790-54C>G	ENSP00000507012.1:n.790-54C>G
ENST00000683847.1:n.748-54C>G
ENST00000683882.1:c.904-54C>G	ENSP00000506735.1:n.904-54C>G
ENST00000684024.1:c.*575-54C>G	ENSP00000507175.1:n.*575-54C>G
ENST00000684254.1:c.*630-54C>G	ENSP00000508001.1:n.*630-54C>G
ENST00000684310.1:c.165+55C>G	ENSP00000507550.1:n.165+55C>G
ENST00000684530.1:c.166-54C>G	ENSP00000507439.1:n.166-54C>G
ENST00000684652.1:n.1906-54C>G
ENST00000340941.11:c.904-54C>G MANE Select	ENSP00000343657.6:n.904-54C>G
ENST00000340941.10:c.904-54C>G	ENSP00000343657.6:n.904-54C>G
ENST00000505435.3:n.255-54C>G
ENST00000505787.7:n.772C>G
ENST00000509358.6:c.904-54C>G	ENSP00000420994.2:n.904-54C>G
ENST00000509539.2:c.229-54C>G	ENSP00000425474.2:n.229-54C>G
ENST00000510895.6:n.518-54C>G
ENST00000512218.6:c.790-54C>G	ENSP00000423202.2:n.790-54C>G
ENST00000629193.2:c.790-54C>G	ENSP00000486535.1:n.790-54C>G
NM_022132.4:c.904-54C>G	NP_071415.1:n.904-54C>G
XM_005248567.1:c.790-54C>G	XP_005248624.1:n.790-54C>G
XM_011543528.1:c.904-54C>G	XP_011541830.1:n.904-54C>G
XM_011543529.1:c.904-54C>G	XP_011541831.1:n.904-54C>G
NM_001363147.1:c.790-54C>G	NP_001350076.1:n.790-54C>G
XM_011543529.2:c.904-54C>G	XP_011541831.1:n.904-54C>G
XM_017009688.1:c.904-54C>G	XP_016865177.1:n.904-54C>G
XR_001742172.1:n.944-54C>G
NM_022132.5:c.904-54C>G MANE Select	NP_071415.1:n.904-54C>G