Canonical Allele Identifier: CA348401348

Gene: PROC

Linked Data

• dbSNP Id: rs1688482813
• MyVariant Identifiers: chr2:g.128183729G>C (hg19) ; chr2:g.127426153G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426153G>C , CM000664.2:g.127426153G>C	GRCh38
NC_000002.11:g.128183729G>C , CM000664.1:g.128183729G>C	GRCh37
NC_000002.10:g.127900199G>C	NCBI36
NG_016323.1:g.12734G>C , LRG_599:g.12734G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.604G>C MANE Select	ENSP00000234071.4:p.Glu202Gln
ENST00000234071.7:c.604G>C	ENSP00000234071.3:p.Glu202Gln
ENST00000402125.2:c.121-2204G>C
ENST00000409048.1:c.706G>C	ENSP00000386679.1:p.Glu236Gln
ENST00000464089.1:n.190G>C
NM_000312.3:c.604G>C , LRG_599t1:c.604G>C	NP_000303.1:p.Glu202Gln
XM_005263715.3:c.787G>C	XP_005263772.1:p.Glu263Gln
XM_005263716.3:c.769G>C	XP_005263773.1:p.Glu257Gln
XM_005263717.3:c.667G>C	XP_005263774.1:p.Glu223Gln
XM_005263717.4:c.667G>C	XP_005263774.1:p.Glu223Gln
XM_017004505.1:c.847G>C	XP_016859994.1:p.Glu283Gln
XM_024453002.1:c.949G>C	XP_024308770.1:p.Glu317Gln
XM_024453003.1:c.889G>C	XP_024308771.1:p.Glu297Gln
XM_024453004.1:c.787G>C	XP_024308772.1:p.Glu263Gln
XM_024453005.1:c.769G>C	XP_024308773.1:p.Glu257Gln
XM_024453006.1:c.706G>C	XP_024308774.1:p.Glu236Gln
XR_923313.2:n.4432C>G
NM_000312.4:c.604G>C MANE Select	NP_000303.1:p.Glu202Gln
NM_001375602.1:c.787G>C	NP_001362531.1:p.Glu263Gln
NM_001375603.1:c.769G>C	NP_001362532.1:p.Glu257Gln
NM_001375604.1:c.667G>C	NP_001362533.1:p.Glu223Gln
NM_001375605.1:c.706G>C	NP_001362534.1:p.Glu236Gln
NM_001375606.1:c.772G>C	NP_001362535.1:p.Glu258Gln
NM_001375607.1:c.790G>C	NP_001362536.1:p.Glu264Gln
NM_001375608.1:c.547G>C	NP_001362537.1:p.Glu183Gln
NM_001375609.1:c.580G>C	NP_001362538.1:p.Glu194Gln
NM_001375610.1:c.598G>C	NP_001362539.1:p.Glu200Gln
NM_001375611.1:c.604G>C	NP_001362540.1:p.Glu202Gln
NM_001375613.1:c.604G>C	NP_001362542.1:p.Glu202Gln