Canonical Allele Identifier: CA348401430

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183744C>A (hg19) ; chr2:g.127426168C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426168C>A , CM000664.2:g.127426168C>A	GRCh38
NC_000002.11:g.128183744C>A , CM000664.1:g.128183744C>A	GRCh37
NC_000002.10:g.127900214C>A	NCBI36
NG_016323.1:g.12749C>A , LRG_599:g.12749C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.619C>A MANE Select	ENSP00000234071.4:p.Gln207Lys
ENST00000234071.7:c.619C>A	ENSP00000234071.3:p.Gln207Lys
ENST00000402125.2:c.121-2189C>A
ENST00000409048.1:c.721C>A	ENSP00000386679.1:p.Gln241Lys
ENST00000464089.1:n.205C>A
NM_000312.3:c.619C>A , LRG_599t1:c.619C>A	NP_000303.1:p.Gln207Lys
XM_005263715.3:c.802C>A	XP_005263772.1:p.Gln268Lys
XM_005263716.3:c.784C>A	XP_005263773.1:p.Gln262Lys
XM_005263717.3:c.682C>A	XP_005263774.1:p.Gln228Lys
XM_005263717.4:c.682C>A	XP_005263774.1:p.Gln228Lys
XM_017004505.1:c.862C>A	XP_016859994.1:p.Gln288Lys
XM_024453002.1:c.964C>A	XP_024308770.1:p.Gln322Lys
XM_024453003.1:c.904C>A	XP_024308771.1:p.Gln302Lys
XM_024453004.1:c.802C>A	XP_024308772.1:p.Gln268Lys
XM_024453005.1:c.784C>A	XP_024308773.1:p.Gln262Lys
XM_024453006.1:c.721C>A	XP_024308774.1:p.Gln241Lys
XR_923313.2:n.4417G>T
NM_000312.4:c.619C>A MANE Select	NP_000303.1:p.Gln207Lys
NM_001375602.1:c.802C>A	NP_001362531.1:p.Gln268Lys
NM_001375603.1:c.784C>A	NP_001362532.1:p.Gln262Lys
NM_001375604.1:c.682C>A	NP_001362533.1:p.Gln228Lys
NM_001375605.1:c.721C>A	NP_001362534.1:p.Gln241Lys
NM_001375606.1:c.787C>A	NP_001362535.1:p.Gln263Lys
NM_001375607.1:c.805C>A	NP_001362536.1:p.Gln269Lys
NM_001375608.1:c.562C>A	NP_001362537.1:p.Gln188Lys
NM_001375609.1:c.595C>A	NP_001362538.1:p.Gln199Lys
NM_001375610.1:c.613C>A	NP_001362539.1:p.Gln205Lys
NM_001375611.1:c.619C>A	NP_001362540.1:p.Gln207Lys
NM_001375613.1:c.619C>A	NP_001362542.1:p.Gln207Lys