Canonical Allele Identifier: CA348401277

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183717A>G (hg19) ; chr2:g.127426141A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426141A>G , CM000664.2:g.127426141A>G	GRCh38
NC_000002.11:g.128183717A>G , CM000664.1:g.128183717A>G	GRCh37
NC_000002.10:g.127900187A>G	NCBI36
NG_016323.1:g.12722A>G , LRG_599:g.12722A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.592A>G MANE Select	ENSP00000234071.4:p.Lys198Glu
ENST00000234071.7:c.592A>G	ENSP00000234071.3:p.Lys198Glu
ENST00000402125.2:c.121-2216A>G
ENST00000409048.1:c.694A>G	ENSP00000386679.1:p.Lys232Glu
ENST00000464089.1:n.178A>G
NM_000312.3:c.592A>G , LRG_599t1:c.592A>G	NP_000303.1:p.Lys198Glu
XM_005263715.3:c.775A>G	XP_005263772.1:p.Lys259Glu
XM_005263716.3:c.757A>G	XP_005263773.1:p.Lys253Glu
XM_005263717.3:c.655A>G	XP_005263774.1:p.Lys219Glu
XM_005263717.4:c.655A>G	XP_005263774.1:p.Lys219Glu
XM_017004505.1:c.835A>G	XP_016859994.1:p.Lys279Glu
XM_024453002.1:c.937A>G	XP_024308770.1:p.Lys313Glu
XM_024453003.1:c.877A>G	XP_024308771.1:p.Lys293Glu
XM_024453004.1:c.775A>G	XP_024308772.1:p.Lys259Glu
XM_024453005.1:c.757A>G	XP_024308773.1:p.Lys253Glu
XM_024453006.1:c.694A>G	XP_024308774.1:p.Lys232Glu
XR_923313.2:n.4444T>C
NM_000312.4:c.592A>G MANE Select	NP_000303.1:p.Lys198Glu
NM_001375602.1:c.775A>G	NP_001362531.1:p.Lys259Glu
NM_001375603.1:c.757A>G	NP_001362532.1:p.Lys253Glu
NM_001375604.1:c.655A>G	NP_001362533.1:p.Lys219Glu
NM_001375605.1:c.694A>G	NP_001362534.1:p.Lys232Glu
NM_001375606.1:c.760A>G	NP_001362535.1:p.Lys254Glu
NM_001375607.1:c.778A>G	NP_001362536.1:p.Lys260Glu
NM_001375608.1:c.535A>G	NP_001362537.1:p.Lys179Glu
NM_001375609.1:c.568A>G	NP_001362538.1:p.Lys190Glu
NM_001375610.1:c.586A>G	NP_001362539.1:p.Lys196Glu
NM_001375611.1:c.592A>G	NP_001362540.1:p.Lys198Glu
NM_001375613.1:c.592A>G	NP_001362542.1:p.Lys198Glu