Canonical Allele Identifier: CA348401599

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183777A>C (hg19) ; chr2:g.127426201A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426201A>C , CM000664.2:g.127426201A>C	GRCh38
NC_000002.11:g.128183777A>C , CM000664.1:g.128183777A>C	GRCh37
NC_000002.10:g.127900247A>C	NCBI36
NG_016323.1:g.12782A>C , LRG_599:g.12782A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.652A>C MANE Select	ENSP00000234071.4:p.Thr218Pro
ENST00000234071.7:c.652A>C	ENSP00000234071.3:p.Thr218Pro
ENST00000402125.2:c.121-2156A>C
ENST00000409048.1:c.754A>C	ENSP00000386679.1:p.Thr252Pro
ENST00000464089.1:n.238A>C
NM_000312.3:c.652A>C , LRG_599t1:c.652A>C	NP_000303.1:p.Thr218Pro
XM_005263715.3:c.835A>C	XP_005263772.1:p.Thr279Pro
XM_005263716.3:c.817A>C	XP_005263773.1:p.Thr273Pro
XM_005263717.3:c.715A>C	XP_005263774.1:p.Thr239Pro
XM_005263717.4:c.715A>C	XP_005263774.1:p.Thr239Pro
XM_017004505.1:c.895A>C	XP_016859994.1:p.Thr299Pro
XM_024453002.1:c.997A>C	XP_024308770.1:p.Thr333Pro
XM_024453003.1:c.937A>C	XP_024308771.1:p.Thr313Pro
XM_024453004.1:c.835A>C	XP_024308772.1:p.Thr279Pro
XM_024453005.1:c.817A>C	XP_024308773.1:p.Thr273Pro
XM_024453006.1:c.754A>C	XP_024308774.1:p.Thr252Pro
XR_923313.2:n.4384T>G
NM_000312.4:c.652A>C MANE Select	NP_000303.1:p.Thr218Pro
NM_001375602.1:c.835A>C	NP_001362531.1:p.Thr279Pro
NM_001375603.1:c.817A>C	NP_001362532.1:p.Thr273Pro
NM_001375604.1:c.715A>C	NP_001362533.1:p.Thr239Pro
NM_001375605.1:c.754A>C	NP_001362534.1:p.Thr252Pro
NM_001375606.1:c.820A>C	NP_001362535.1:p.Thr274Pro
NM_001375607.1:c.838A>C	NP_001362536.1:p.Thr280Pro
NM_001375608.1:c.595A>C	NP_001362537.1:p.Thr199Pro
NM_001375609.1:c.628A>C	NP_001362538.1:p.Thr210Pro
NM_001375610.1:c.646A>C	NP_001362539.1:p.Thr216Pro
NM_001375611.1:c.652A>C	NP_001362540.1:p.Thr218Pro
NM_001375613.1:c.652A>C	NP_001362542.1:p.Thr218Pro