Canonical Allele Identifier: CA348401700

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183790A>T (hg19) ; chr2:g.127426214A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426214A>T , CM000664.2:g.127426214A>T	GRCh38
NC_000002.11:g.128183790A>T , CM000664.1:g.128183790A>T	GRCh37
NC_000002.10:g.127900260A>T	NCBI36
NG_016323.1:g.12795A>T , LRG_599:g.12795A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.665A>T MANE Select	ENSP00000234071.4:p.Asp222Val
ENST00000234071.7:c.665A>T	ENSP00000234071.3:p.Asp222Val
ENST00000402125.2:c.121-2143A>T
ENST00000409048.1:c.767A>T	ENSP00000386679.1:p.Asp256Val
ENST00000464089.1:n.251A>T
NM_000312.3:c.665A>T , LRG_599t1:c.665A>T	NP_000303.1:p.Asp222Val
XM_005263715.3:c.848A>T	XP_005263772.1:p.Asp283Val
XM_005263716.3:c.830A>T	XP_005263773.1:p.Asp277Val
XM_005263717.3:c.728A>T	XP_005263774.1:p.Asp243Val
XM_005263717.4:c.728A>T	XP_005263774.1:p.Asp243Val
XM_017004505.1:c.908A>T	XP_016859994.1:p.Asp303Val
XM_024453002.1:c.1010A>T	XP_024308770.1:p.Asp337Val
XM_024453003.1:c.950A>T	XP_024308771.1:p.Asp317Val
XM_024453004.1:c.848A>T	XP_024308772.1:p.Asp283Val
XM_024453005.1:c.830A>T	XP_024308773.1:p.Asp277Val
XM_024453006.1:c.767A>T	XP_024308774.1:p.Asp256Val
XR_923313.2:n.4371T>A
NM_000312.4:c.665A>T MANE Select	NP_000303.1:p.Asp222Val
NM_001375602.1:c.848A>T	NP_001362531.1:p.Asp283Val
NM_001375603.1:c.830A>T	NP_001362532.1:p.Asp277Val
NM_001375604.1:c.728A>T	NP_001362533.1:p.Asp243Val
NM_001375605.1:c.767A>T	NP_001362534.1:p.Asp256Val
NM_001375606.1:c.833A>T	NP_001362535.1:p.Asp278Val
NM_001375607.1:c.851A>T	NP_001362536.1:p.Asp284Val
NM_001375608.1:c.608A>T	NP_001362537.1:p.Asp203Val
NM_001375609.1:c.641A>T	NP_001362538.1:p.Asp214Val
NM_001375610.1:c.659A>T	NP_001362539.1:p.Asp220Val
NM_001375611.1:c.665A>T	NP_001362540.1:p.Asp222Val
NM_001375613.1:c.665A>T	NP_001362542.1:p.Asp222Val