Canonical Allele Identifier: CA119992318

Gene: MCCC2

Linked Data

• dbSNP Id: rs1010427029
• gnomAD v4: 5-71634886-ATATT-A
• MyVariant Identifiers: chr5:g.70930714_70930717del (hg19) ; chr5:g.71634887_71634890del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71634889_71634892del , CM000667.2:g.71634889_71634892del	GRCh38
NC_000005.9:g.70930716_70930719del , CM000667.1:g.70930716_70930719del	GRCh37
NC_000005.8:g.70966472_70966475del	NCBI36
NG_008882.1:g.52602_52605del

Transcript Alleles

HGVS	Amino-acid change
ENST00000505435.4:n.760-54_760-51del
ENST00000505787.8:n.2644-54_2644-51del
ENST00000509358.7:c.804-54_804-51del	ENSP00000420994.3:n.804-54_804-51del
ENST00000509539.3:c.66-54_66-51del	ENSP00000425474.3:n.66-54_66-51del
ENST00000510895.7:n.927-54_927-51del
ENST00000629193.3:c.690-54_690-51del	ENSP00000486535.2:n.690-54_690-51del
ENST00000681968.1:c.297-54_297-51del	ENSP00000508143.1:n.297-54_297-51del
ENST00000682045.1:c.660-54_660-51del	ENSP00000507329.1:n.660-54_660-51del
ENST00000682214.1:c.411-54_411-51del	ENSP00000507336.1:n.411-54_411-51del
ENST00000682499.1:n.1625-54_1625-51del
ENST00000682541.1:c.804-54_804-51del	ENSP00000507673.1:n.804-54_804-51del
ENST00000682687.1:c.804-54_804-51del	ENSP00000507945.1:n.804-54_804-51del
ENST00000682727.1:c.804-54_804-51del	ENSP00000507393.1:n.804-54_804-51del
ENST00000682876.1:c.933-54_933-51del	ENSP00000508389.1:n.933-54_933-51del
ENST00000683098.1:c.803+2704_803+2707del	ENSP00000507670.1:n.803+2704_803+2707del
ENST00000683258.1:c.*525-54_*525-51del	ENSP00000507448.1:n.*525-54_*525-51del
ENST00000683339.1:c.588-54_588-51del	ENSP00000507758.1:n.588-54_588-51del
ENST00000683403.1:c.804-54_804-51del	ENSP00000507896.1:n.804-54_804-51del
ENST00000683429.1:c.411-54_411-51del	ENSP00000507697.1:n.411-54_411-51del
ENST00000683665.1:c.804-54_804-51del	ENSP00000507068.1:n.804-54_804-51del
ENST00000683789.1:c.690-54_690-51del	ENSP00000507012.1:n.690-54_690-51del
ENST00000683847.1:n.648-54_648-51del
ENST00000683882.1:c.804-54_804-51del	ENSP00000506735.1:n.804-54_804-51del
ENST00000684024.1:c.*475-54_*475-51del	ENSP00000507175.1:n.*475-54_*475-51del
ENST00000684254.1:c.*530-54_*530-51del	ENSP00000508001.1:n.*530-54_*530-51del
ENST00000684310.1:c.66-54_66-51del	ENSP00000507550.1:n.66-54_66-51del
ENST00000684530.1:c.66-54_66-51del	ENSP00000507439.1:n.66-54_66-51del
ENST00000684652.1:n.1752_1755del
ENST00000340941.11:c.804-54_804-51del MANE Select	ENSP00000343657.6:n.804-54_804-51del
ENST00000340941.10:c.804-54_804-51del	ENSP00000343657.6:n.804-54_804-51del
ENST00000505435.3:n.155-54_155-51del
ENST00000505787.7:n.618-54_618-51del
ENST00000509358.6:c.804-54_804-51del	ENSP00000420994.2:n.804-54_804-51del
ENST00000509539.2:c.129-54_129-51del	ENSP00000425474.2:n.129-54_129-51del
ENST00000510895.6:n.418-54_418-51del
ENST00000512218.6:c.690-54_690-51del	ENSP00000423202.2:n.690-54_690-51del
ENST00000629193.2:c.690-54_690-51del	ENSP00000486535.1:n.690-54_690-51del
NM_022132.4:c.804-54_804-51del	NP_071415.1:n.804-54_804-51del
XM_005248567.1:c.690-54_690-51del	XP_005248624.1:n.690-54_690-51del
XM_011543528.1:c.804-54_804-51del	XP_011541830.1:n.804-54_804-51del
XM_011543529.1:c.804-54_804-51del	XP_011541831.1:n.804-54_804-51del
NM_001363147.1:c.690-54_690-51del	NP_001350076.1:n.690-54_690-51del
XM_011543529.2:c.804-54_804-51del	XP_011541831.1:n.804-54_804-51del
XM_017009688.1:c.804-54_804-51del	XP_016865177.1:n.804-54_804-51del
XR_001742172.1:n.844-54_844-51del
NM_022132.5:c.804-54_804-51del MANE Select	NP_071415.1:n.804-54_804-51del