Canonical Allele Identifier: CA560455952

Gene: MCCC2

Linked Data

• ClinVar Variation Id: 1598176
• ClinVar RCV Id: RCV002105997
• dbSNP Id: rs1348079727
• gnomAD v2: 5-70930877-C-T
• gnomAD v3: 5-71635050-C-T
• gnomAD v4: 5-71635050-C-T
• MyVariant Identifiers: chr5:g.70930877C>T (hg19) ; chr5:g.71635050C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635050C>T , CM000667.2:g.71635050C>T	GRCh38
NC_000005.9:g.70930877C>T , CM000667.1:g.70930877C>T	GRCh37
NC_000005.8:g.70966633C>T	NCBI36
NG_008882.1:g.52763C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.859+8C>T
ENST00000505787.8:n.2743+8C>T
ENST00000509358.7:c.903+8C>T	ENSP00000420994.3:n.903+8C>T
ENST00000509539.3:c.165+8C>T	ENSP00000425474.3:n.165+8C>T
ENST00000510895.7:n.1026+8C>T
ENST00000629193.3:c.789+8C>T	ENSP00000486535.2:n.789+8C>T
ENST00000681968.1:c.396+8C>T	ENSP00000508143.1:n.396+8C>T
ENST00000682045.1:c.759+8C>T	ENSP00000507329.1:n.759+8C>T
ENST00000682214.1:c.510+8C>T	ENSP00000507336.1:n.510+8C>T
ENST00000682499.1:n.1724+8C>T
ENST00000682541.1:c.903+8C>T	ENSP00000507673.1:n.903+8C>T
ENST00000682687.1:c.903+8C>T	ENSP00000507945.1:n.903+8C>T
ENST00000682727.1:c.903+8C>T	ENSP00000507393.1:n.903+8C>T
ENST00000682876.1:c.1032+8C>T	ENSP00000508389.1:n.1032+8C>T
ENST00000683098.1:c.803+2865C>T	ENSP00000507670.1:n.803+2865C>T
ENST00000683258.1:c.*624+8C>T	ENSP00000507448.1:n.*624+8C>T
ENST00000683339.1:c.687+8C>T	ENSP00000507758.1:n.687+8C>T
ENST00000683403.1:c.813+98C>T	ENSP00000507896.1:n.813+98C>T
ENST00000683429.1:c.510+8C>T	ENSP00000507697.1:n.510+8C>T
ENST00000683665.1:c.903+8C>T	ENSP00000507068.1:n.903+8C>T
ENST00000683789.1:c.789+8C>T	ENSP00000507012.1:n.789+8C>T
ENST00000683847.1:n.747+8C>T
ENST00000683882.1:c.903+8C>T	ENSP00000506735.1:n.903+8C>T
ENST00000684024.1:c.*574+8C>T	ENSP00000507175.1:n.*574+8C>T
ENST00000684254.1:c.*629+8C>T	ENSP00000508001.1:n.*629+8C>T
ENST00000684310.1:c.165+8C>T	ENSP00000507550.1:n.165+8C>T
ENST00000684530.1:c.165+8C>T	ENSP00000507439.1:n.165+8C>T
ENST00000684652.1:n.1905+8C>T
ENST00000340941.11:c.903+8C>T MANE Select	ENSP00000343657.6:n.903+8C>T
ENST00000340941.10:c.903+8C>T	ENSP00000343657.6:n.903+8C>T
ENST00000505435.3:n.254+8C>T
ENST00000505787.7:n.725C>T
ENST00000509358.6:c.903+8C>T	ENSP00000420994.2:n.903+8C>T
ENST00000509539.2:c.228+8C>T	ENSP00000425474.2:n.228+8C>T
ENST00000510895.6:n.517+8C>T
ENST00000512218.6:c.789+8C>T	ENSP00000423202.2:n.789+8C>T
ENST00000629193.2:c.789+8C>T	ENSP00000486535.1:n.789+8C>T
NM_022132.4:c.903+8C>T	NP_071415.1:n.903+8C>T
XM_005248567.1:c.789+8C>T	XP_005248624.1:n.789+8C>T
XM_011543528.1:c.903+8C>T	XP_011541830.1:n.903+8C>T
XM_011543529.1:c.903+8C>T	XP_011541831.1:n.903+8C>T
NM_001363147.1:c.789+8C>T	NP_001350076.1:n.789+8C>T
XM_011543529.2:c.903+8C>T	XP_011541831.1:n.903+8C>T
XM_017009688.1:c.903+8C>T	XP_016865177.1:n.903+8C>T
XR_001742172.1:n.943+8C>T
NM_022132.5:c.903+8C>T MANE Select	NP_071415.1:n.903+8C>T