Canonical Allele Identifier: CA348401504

Gene: PROC

Linked Data

• ClinVar Variation Id: 2768041
• ClinVar RCV Id: RCV003496686
• MyVariant Identifiers: chr2:g.128183760T>C (hg19) ; chr2:g.127426184T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426184T>C , CM000664.2:g.127426184T>C	GRCh38
NC_000002.11:g.128183760T>C , CM000664.1:g.128183760T>C	GRCh37
NC_000002.10:g.127900230T>C	NCBI36
NG_016323.1:g.12765T>C , LRG_599:g.12765T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.635T>C MANE Select	ENSP00000234071.4:p.Leu212Pro
ENST00000234071.7:c.635T>C	ENSP00000234071.3:p.Leu212Pro
ENST00000402125.2:c.121-2173T>C
ENST00000409048.1:c.737T>C	ENSP00000386679.1:p.Leu246Pro
ENST00000464089.1:n.221T>C
NM_000312.3:c.635T>C , LRG_599t1:c.635T>C	NP_000303.1:p.Leu212Pro
XM_005263715.3:c.818T>C	XP_005263772.1:p.Leu273Pro
XM_005263716.3:c.800T>C	XP_005263773.1:p.Leu267Pro
XM_005263717.3:c.698T>C	XP_005263774.1:p.Leu233Pro
XM_005263717.4:c.698T>C	XP_005263774.1:p.Leu233Pro
XM_017004505.1:c.878T>C	XP_016859994.1:p.Leu293Pro
XM_024453002.1:c.980T>C	XP_024308770.1:p.Leu327Pro
XM_024453003.1:c.920T>C	XP_024308771.1:p.Leu307Pro
XM_024453004.1:c.818T>C	XP_024308772.1:p.Leu273Pro
XM_024453005.1:c.800T>C	XP_024308773.1:p.Leu267Pro
XM_024453006.1:c.737T>C	XP_024308774.1:p.Leu246Pro
XR_923313.2:n.4401A>G
NM_000312.4:c.635T>C MANE Select	NP_000303.1:p.Leu212Pro
NM_001375602.1:c.818T>C	NP_001362531.1:p.Leu273Pro
NM_001375603.1:c.800T>C	NP_001362532.1:p.Leu267Pro
NM_001375604.1:c.698T>C	NP_001362533.1:p.Leu233Pro
NM_001375605.1:c.737T>C	NP_001362534.1:p.Leu246Pro
NM_001375606.1:c.803T>C	NP_001362535.1:p.Leu268Pro
NM_001375607.1:c.821T>C	NP_001362536.1:p.Leu274Pro
NM_001375608.1:c.578T>C	NP_001362537.1:p.Leu193Pro
NM_001375609.1:c.611T>C	NP_001362538.1:p.Leu204Pro
NM_001375610.1:c.629T>C	NP_001362539.1:p.Leu210Pro
NM_001375611.1:c.635T>C	NP_001362540.1:p.Leu212Pro
NM_001375613.1:c.635T>C	NP_001362542.1:p.Leu212Pro