Canonical Allele Identifier: CA359987052

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70930852T>A (hg19) ; chr5:g.71635025T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635025T>A , CM000667.2:g.71635025T>A	GRCh38
NC_000005.9:g.70930852T>A , CM000667.1:g.70930852T>A	GRCh37
NC_000005.8:g.70966608T>A	NCBI36
NG_008882.1:g.52738T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.842T>A
ENST00000505787.8:n.2726T>A
ENST00000509358.7:c.886T>A	ENSP00000420994.3:p.Tyr296Asn
ENST00000509539.3:c.148T>A	ENSP00000425474.3:p.Tyr50Asn
ENST00000510895.7:n.1009T>A
ENST00000629193.3:c.772T>A	ENSP00000486535.2:p.Tyr258Asn
ENST00000681968.1:c.379T>A	ENSP00000508143.1:p.Tyr127Asn
ENST00000682045.1:c.742T>A	ENSP00000507329.1:p.Tyr248Asn
ENST00000682214.1:c.493T>A	ENSP00000507336.1:p.Tyr165Asn
ENST00000682499.1:n.1707T>A
ENST00000682541.1:c.886T>A	ENSP00000507673.1:p.Tyr296Asn
ENST00000682687.1:c.886T>A	ENSP00000507945.1:p.Tyr296Asn
ENST00000682727.1:c.886T>A	ENSP00000507393.1:p.Tyr296Asn
ENST00000682876.1:c.1015T>A	ENSP00000508389.1:p.Tyr339Asn
ENST00000683098.1:c.803+2840T>A	ENSP00000507670.1:n.803+2840T>A
ENST00000683258.1:c.*607T>A	ENSP00000507448.1:n.*607T>A
ENST00000683339.1:c.670T>A	ENSP00000507758.1:p.Tyr224Asn
ENST00000683403.1:c.813+73T>A	ENSP00000507896.1:n.813+73T>A
ENST00000683429.1:c.493T>A	ENSP00000507697.1:p.Tyr165Asn
ENST00000683665.1:c.886T>A	ENSP00000507068.1:p.Tyr296Asn
ENST00000683789.1:c.772T>A	ENSP00000507012.1:p.Tyr258Asn
ENST00000683847.1:n.730T>A
ENST00000683882.1:c.886T>A	ENSP00000506735.1:p.Tyr296Asn
ENST00000684024.1:c.*557T>A	ENSP00000507175.1:n.*557T>A
ENST00000684254.1:c.*612T>A	ENSP00000508001.1:n.*612T>A
ENST00000684310.1:c.148T>A	ENSP00000507550.1:p.Tyr50Asn
ENST00000684530.1:c.148T>A	ENSP00000507439.1:p.Tyr50Asn
ENST00000684652.1:n.1888T>A
ENST00000340941.11:c.886T>A MANE Select	ENSP00000343657.6:p.Tyr296Asn
ENST00000340941.10:c.886T>A	ENSP00000343657.6:p.Tyr296Asn
ENST00000505435.3:n.237T>A
ENST00000505787.7:n.700T>A
ENST00000509358.6:c.886T>A	ENSP00000420994.2:p.Tyr296Asn
ENST00000509539.2:c.211T>A	ENSP00000425474.2:p.Tyr71Asn
ENST00000510895.6:n.500T>A
ENST00000512218.6:c.772T>A	ENSP00000423202.2:p.Tyr258Asn
ENST00000629193.2:c.772T>A	ENSP00000486535.1:p.Tyr258Asn
NM_022132.4:c.886T>A	NP_071415.1:p.Tyr296Asn
XM_005248567.1:c.772T>A	XP_005248624.1:p.Tyr258Asn
XM_011543528.1:c.886T>A	XP_011541830.1:p.Tyr296Asn
XM_011543529.1:c.886T>A	XP_011541831.1:p.Tyr296Asn
NM_001363147.1:c.772T>A	NP_001350076.1:p.Tyr258Asn
XM_011543529.2:c.886T>A	XP_011541831.1:p.Tyr296Asn
XM_017009688.1:c.886T>A	XP_016865177.1:p.Tyr296Asn
XR_001742172.1:n.926T>A
NM_022132.5:c.886T>A MANE Select	NP_071415.1:p.Tyr296Asn