Canonical Allele Identifier: CA348401712

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183792A>T (hg19) ; chr2:g.127426216A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426216A>T , CM000664.2:g.127426216A>T	GRCh38
NC_000002.11:g.128183792A>T , CM000664.1:g.128183792A>T	GRCh37
NC_000002.10:g.127900262A>T	NCBI36
NG_016323.1:g.12797A>T , LRG_599:g.12797A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.667A>T MANE Select	ENSP00000234071.4:p.Ser223Cys
ENST00000234071.7:c.667A>T	ENSP00000234071.3:p.Ser223Cys
ENST00000402125.2:c.121-2141A>T
ENST00000409048.1:c.769A>T	ENSP00000386679.1:p.Ser257Cys
ENST00000464089.1:n.253A>T
NM_000312.3:c.667A>T , LRG_599t1:c.667A>T	NP_000303.1:p.Ser223Cys
XM_005263715.3:c.850A>T	XP_005263772.1:p.Ser284Cys
XM_005263716.3:c.832A>T	XP_005263773.1:p.Ser278Cys
XM_005263717.3:c.730A>T	XP_005263774.1:p.Ser244Cys
XM_005263717.4:c.730A>T	XP_005263774.1:p.Ser244Cys
XM_017004505.1:c.910A>T	XP_016859994.1:p.Ser304Cys
XM_024453002.1:c.1012A>T	XP_024308770.1:p.Ser338Cys
XM_024453003.1:c.952A>T	XP_024308771.1:p.Ser318Cys
XM_024453004.1:c.850A>T	XP_024308772.1:p.Ser284Cys
XM_024453005.1:c.832A>T	XP_024308773.1:p.Ser278Cys
XM_024453006.1:c.769A>T	XP_024308774.1:p.Ser257Cys
XR_923313.2:n.4369T>A
NM_000312.4:c.667A>T MANE Select	NP_000303.1:p.Ser223Cys
NM_001375602.1:c.850A>T	NP_001362531.1:p.Ser284Cys
NM_001375603.1:c.832A>T	NP_001362532.1:p.Ser278Cys
NM_001375604.1:c.730A>T	NP_001362533.1:p.Ser244Cys
NM_001375605.1:c.769A>T	NP_001362534.1:p.Ser257Cys
NM_001375606.1:c.835A>T	NP_001362535.1:p.Ser279Cys
NM_001375607.1:c.853A>T	NP_001362536.1:p.Ser285Cys
NM_001375608.1:c.610A>T	NP_001362537.1:p.Ser204Cys
NM_001375609.1:c.643A>T	NP_001362538.1:p.Ser215Cys
NM_001375610.1:c.661A>T	NP_001362539.1:p.Ser221Cys
NM_001375611.1:c.667A>T	NP_001362540.1:p.Ser223Cys
NM_001375613.1:c.667A>T	NP_001362542.1:p.Ser223Cys