Canonical Allele Identifier: CA348405223

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186119G>C (hg19) ; chr2:g.127428543G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428543G>C , CM000664.2:g.127428543G>C	GRCh38
NC_000002.11:g.128186119G>C , CM000664.1:g.128186119G>C	GRCh37
NC_000002.10:g.127902589G>C	NCBI36
NG_016323.1:g.15124G>C , LRG_599:g.15124G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.983G>C MANE Select	ENSP00000234071.4:p.Arg328Pro
ENST00000234071.7:c.983G>C	ENSP00000234071.3:p.Arg328Pro
ENST00000402125.2:c.307G>C
ENST00000409048.1:c.1085G>C	ENSP00000386679.1:p.Arg362Pro
NM_000312.3:c.983G>C , LRG_599t1:c.983G>C	NP_000303.1:p.Arg328Pro
XM_005263715.3:c.1166G>C	XP_005263772.1:p.Arg389Pro
XM_005263716.3:c.1148G>C	XP_005263773.1:p.Arg383Pro
XM_005263717.3:c.1046G>C	XP_005263774.1:p.Arg349Pro
XR_923313.1:n.1332-279C>G
XM_005263717.4:c.1046G>C	XP_005263774.1:p.Arg349Pro
XM_017004505.1:c.1226G>C	XP_016859994.1:p.Arg409Pro
XM_024453002.1:c.1328G>C	XP_024308770.1:p.Arg443Pro
XM_024453003.1:c.1268G>C	XP_024308771.1:p.Arg423Pro
XM_024453004.1:c.1166G>C	XP_024308772.1:p.Arg389Pro
XM_024453005.1:c.1148G>C	XP_024308773.1:p.Arg383Pro
XM_024453006.1:c.1085G>C	XP_024308774.1:p.Arg362Pro
XR_001739705.1:n.3607-279C>G
XR_923313.2:n.4043-279C>G
NM_000312.4:c.983G>C MANE Select	NP_000303.1:p.Arg328Pro
NM_001375602.1:c.1166G>C	NP_001362531.1:p.Arg389Pro
NM_001375603.1:c.1148G>C	NP_001362532.1:p.Arg383Pro
NM_001375604.1:c.1046G>C	NP_001362533.1:p.Arg349Pro
NM_001375605.1:c.1085G>C	NP_001362534.1:p.Arg362Pro
NM_001375606.1:c.1151G>C	NP_001362535.1:p.Arg384Pro
NM_001375607.1:c.1169G>C	NP_001362536.1:p.Arg390Pro
NM_001375608.1:c.926G>C	NP_001362537.1:p.Arg309Pro
NM_001375609.1:c.959G>C	NP_001362538.1:p.Arg320Pro
NM_001375610.1:c.977G>C	NP_001362539.1:p.Arg326Pro
NM_001375611.1:c.983G>C	NP_001362540.1:p.Arg328Pro
NM_001375613.1:c.983G>C	NP_001362542.1:p.Arg328Pro