Canonical Allele Identifier: CA444801155

Gene: MCCC2

Linked Data

• dbSNP Id: rs1165188920
• gnomAD v3: 5-71635177-T-G
• gnomAD v4: 5-71635177-T-G
• MyVariant Identifiers: chr5:g.70931004T>G (hg19) ; chr5:g.71635177T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635177T>G , CM000667.2:g.71635177T>G	GRCh38
NC_000005.9:g.70931004T>G , CM000667.1:g.70931004T>G	GRCh37
NC_000005.8:g.70966760T>G	NCBI36
NG_008882.1:g.52890T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000505435.4:n.886T>G
ENST00000505787.8:n.2770T>G
ENST00000509358.7:c.930T>G	ENSP00000420994.3:p.Pro310=
ENST00000509539.3:c.192T>G	ENSP00000425474.3:p.Pro64=
ENST00000510895.7:n.1053T>G
ENST00000629193.3:c.816T>G	ENSP00000486535.2:p.Pro272=
ENST00000681968.1:c.423T>G	ENSP00000508143.1:p.Pro141=
ENST00000682045.1:c.786T>G	ENSP00000507329.1:p.Pro262=
ENST00000682214.1:c.537T>G	ENSP00000507336.1:p.Pro179=
ENST00000682499.1:n.1751T>G
ENST00000682541.1:c.930T>G	ENSP00000507673.1:p.Pro310=
ENST00000682687.1:c.930T>G	ENSP00000507945.1:p.Pro310=
ENST00000682727.1:c.930T>G	ENSP00000507393.1:p.Pro310=
ENST00000682876.1:c.1059T>G	ENSP00000508389.1:p.Pro353=
ENST00000683098.1:c.803+2992T>G	ENSP00000507670.1:n.803+2992T>G
ENST00000683258.1:c.*651T>G	ENSP00000507448.1:n.*651T>G
ENST00000683339.1:c.714T>G	ENSP00000507758.1:p.Pro238=
ENST00000683403.1:c.840T>G	ENSP00000507896.1:p.Pro280=
ENST00000683429.1:c.537T>G	ENSP00000507697.1:p.Pro179=
ENST00000683665.1:c.930T>G	ENSP00000507068.1:p.Pro310=
ENST00000683789.1:c.816T>G	ENSP00000507012.1:p.Pro272=
ENST00000683847.1:n.774T>G
ENST00000683882.1:c.930T>G	ENSP00000506735.1:p.Pro310=
ENST00000684024.1:c.*601T>G	ENSP00000507175.1:n.*601T>G
ENST00000684254.1:c.*656T>G	ENSP00000508001.1:n.*656T>G
ENST00000684310.1:c.165+135T>G	ENSP00000507550.1:n.165+135T>G
ENST00000684530.1:c.192T>G	ENSP00000507439.1:p.Pro64=
ENST00000684652.1:n.1932T>G
ENST00000340941.11:c.930T>G MANE Select	ENSP00000343657.6:p.Pro310=
ENST00000340941.10:c.930T>G	ENSP00000343657.6:p.Pro310=
ENST00000505435.3:n.281T>G
ENST00000509358.6:c.930T>G	ENSP00000420994.2:p.Pro310=
ENST00000509539.2:c.255T>G	ENSP00000425474.2:p.Pro85=
ENST00000510895.6:n.544T>G
ENST00000512218.6:c.816T>G	ENSP00000423202.2:p.Pro272=
ENST00000629193.2:c.816T>G	ENSP00000486535.1:p.Pro272=
NM_022132.4:c.930T>G	NP_071415.1:p.Pro310=
XM_005248567.1:c.816T>G	XP_005248624.1:p.Pro272=
XM_011543528.1:c.930T>G	XP_011541830.1:p.Pro310=
XM_011543529.1:c.930T>G	XP_011541831.1:p.Pro310=
NM_001363147.1:c.816T>G	NP_001350076.1:p.Pro272=
XM_011543529.2:c.930T>G	XP_011541831.1:p.Pro310=
XM_017009688.1:c.930T>G	XP_016865177.1:p.Pro310=
XR_001742172.1:n.970T>G
NM_022132.5:c.930T>G MANE Select	NP_071415.1:p.Pro310=