Canonical Allele Identifier: CA348401219

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183708A>C (hg19) ; chr2:g.127426132A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426132A>C , CM000664.2:g.127426132A>C	GRCh38
NC_000002.11:g.128183708A>C , CM000664.1:g.128183708A>C	GRCh37
NC_000002.10:g.127900178A>C	NCBI36
NG_016323.1:g.12713A>C , LRG_599:g.12713A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.583A>C MANE Select	ENSP00000234071.4:p.Ser195Arg
ENST00000234071.7:c.583A>C	ENSP00000234071.3:p.Ser195Arg
ENST00000402125.2:c.121-2225A>C
ENST00000409048.1:c.685A>C	ENSP00000386679.1:p.Ser229Arg
ENST00000464089.1:n.169A>C
NM_000312.3:c.583A>C , LRG_599t1:c.583A>C	NP_000303.1:p.Ser195Arg
XM_005263715.3:c.766A>C	XP_005263772.1:p.Ser256Arg
XM_005263716.3:c.748A>C	XP_005263773.1:p.Ser250Arg
XM_005263717.3:c.646A>C	XP_005263774.1:p.Ser216Arg
XM_005263717.4:c.646A>C	XP_005263774.1:p.Ser216Arg
XM_017004505.1:c.826A>C	XP_016859994.1:p.Ser276Arg
XM_024453002.1:c.928A>C	XP_024308770.1:p.Ser310Arg
XM_024453003.1:c.868A>C	XP_024308771.1:p.Ser290Arg
XM_024453004.1:c.766A>C	XP_024308772.1:p.Ser256Arg
XM_024453005.1:c.748A>C	XP_024308773.1:p.Ser250Arg
XM_024453006.1:c.685A>C	XP_024308774.1:p.Ser229Arg
XR_923313.2:n.4453T>G
NM_000312.4:c.583A>C MANE Select	NP_000303.1:p.Ser195Arg
NM_001375602.1:c.766A>C	NP_001362531.1:p.Ser256Arg
NM_001375603.1:c.748A>C	NP_001362532.1:p.Ser250Arg
NM_001375604.1:c.646A>C	NP_001362533.1:p.Ser216Arg
NM_001375605.1:c.685A>C	NP_001362534.1:p.Ser229Arg
NM_001375606.1:c.751A>C	NP_001362535.1:p.Ser251Arg
NM_001375607.1:c.769A>C	NP_001362536.1:p.Ser257Arg
NM_001375608.1:c.526A>C	NP_001362537.1:p.Ser176Arg
NM_001375609.1:c.559A>C	NP_001362538.1:p.Ser187Arg
NM_001375610.1:c.577A>C	NP_001362539.1:p.Ser193Arg
NM_001375611.1:c.583A>C	NP_001362540.1:p.Ser195Arg
NM_001375613.1:c.583A>C	NP_001362542.1:p.Ser195Arg