Canonical Allele Identifier: CA348404292

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128185954G>A (hg19) ; chr2:g.127428378G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428378G>A , CM000664.2:g.127428378G>A	GRCh38
NC_000002.11:g.128185954G>A , CM000664.1:g.128185954G>A	GRCh37
NC_000002.10:g.127902424G>A	NCBI36
NG_016323.1:g.14959G>A , LRG_599:g.14959G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.818G>A MANE Select	ENSP00000234071.4:p.Trp273Ter
ENST00000234071.7:c.818G>A	ENSP00000234071.3:p.Trp273Ter
ENST00000402125.2:c.142G>A
ENST00000409048.1:c.920G>A	ENSP00000386679.1:p.Trp307Ter
NM_000312.3:c.818G>A , LRG_599t1:c.818G>A	NP_000303.1:p.Trp273Ter
XM_005263715.3:c.1001G>A	XP_005263772.1:p.Trp334Ter
XM_005263716.3:c.983G>A	XP_005263773.1:p.Trp328Ter
XM_005263717.3:c.881G>A	XP_005263774.1:p.Trp294Ter
XR_923313.1:n.1332-114C>T
XM_005263717.4:c.881G>A	XP_005263774.1:p.Trp294Ter
XM_017004505.1:c.1061G>A	XP_016859994.1:p.Trp354Ter
XM_024453002.1:c.1163G>A	XP_024308770.1:p.Trp388Ter
XM_024453003.1:c.1103G>A	XP_024308771.1:p.Trp368Ter
XM_024453004.1:c.1001G>A	XP_024308772.1:p.Trp334Ter
XM_024453005.1:c.983G>A	XP_024308773.1:p.Trp328Ter
XM_024453006.1:c.920G>A	XP_024308774.1:p.Trp307Ter
XR_001739705.1:n.3607-114C>T
XR_923313.2:n.4043-114C>T
NM_000312.4:c.818G>A MANE Select	NP_000303.1:p.Trp273Ter
NM_001375602.1:c.1001G>A	NP_001362531.1:p.Trp334Ter
NM_001375603.1:c.983G>A	NP_001362532.1:p.Trp328Ter
NM_001375604.1:c.881G>A	NP_001362533.1:p.Trp294Ter
NM_001375605.1:c.920G>A	NP_001362534.1:p.Trp307Ter
NM_001375606.1:c.986G>A	NP_001362535.1:p.Trp329Ter
NM_001375607.1:c.1004G>A	NP_001362536.1:p.Trp335Ter
NM_001375608.1:c.761G>A	NP_001362537.1:p.Trp254Ter
NM_001375609.1:c.794G>A	NP_001362538.1:p.Trp265Ter
NM_001375610.1:c.812G>A	NP_001362539.1:p.Trp271Ter
NM_001375611.1:c.818G>A	NP_001362540.1:p.Trp273Ter
NM_001375613.1:c.818G>A	NP_001362542.1:p.Trp273Ter