Canonical Allele Identifier: CA348401119

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183694T>G (hg19) ; chr2:g.127426118T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426118T>G , CM000664.2:g.127426118T>G	GRCh38
NC_000002.11:g.128183694T>G , CM000664.1:g.128183694T>G	GRCh37
NC_000002.10:g.127900164T>G	NCBI36
NG_016323.1:g.12699T>G , LRG_599:g.12699T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.569T>G MANE Select	ENSP00000234071.4:p.Met190Arg
ENST00000234071.7:c.569T>G	ENSP00000234071.3:p.Met190Arg
ENST00000402125.2:c.121-2239T>G
ENST00000409048.1:c.671T>G	ENSP00000386679.1:p.Met224Arg
ENST00000442644.5:c.512T>G	ENSP00000411241.1:p.Met171Arg
ENST00000464089.1:n.155T>G
NM_000312.3:c.569T>G , LRG_599t1:c.569T>G	NP_000303.1:p.Met190Arg
XM_005263715.3:c.752T>G	XP_005263772.1:p.Met251Arg
XM_005263716.3:c.734T>G	XP_005263773.1:p.Met245Arg
XM_005263717.3:c.632T>G	XP_005263774.1:p.Met211Arg
XM_005263717.4:c.632T>G	XP_005263774.1:p.Met211Arg
XM_017004505.1:c.812T>G	XP_016859994.1:p.Met271Arg
XM_024453002.1:c.914T>G	XP_024308770.1:p.Met305Arg
XM_024453003.1:c.854T>G	XP_024308771.1:p.Met285Arg
XM_024453004.1:c.752T>G	XP_024308772.1:p.Met251Arg
XM_024453005.1:c.734T>G	XP_024308773.1:p.Met245Arg
XM_024453006.1:c.671T>G	XP_024308774.1:p.Met224Arg
XR_923313.2:n.4467A>C
NM_000312.4:c.569T>G MANE Select	NP_000303.1:p.Met190Arg
NM_001375602.1:c.752T>G	NP_001362531.1:p.Met251Arg
NM_001375603.1:c.734T>G	NP_001362532.1:p.Met245Arg
NM_001375604.1:c.632T>G	NP_001362533.1:p.Met211Arg
NM_001375605.1:c.671T>G	NP_001362534.1:p.Met224Arg
NM_001375606.1:c.737T>G	NP_001362535.1:p.Met246Arg
NM_001375607.1:c.755T>G	NP_001362536.1:p.Met252Arg
NM_001375608.1:c.512T>G	NP_001362537.1:p.Met171Arg
NM_001375609.1:c.545T>G	NP_001362538.1:p.Met182Arg
NM_001375610.1:c.563T>G	NP_001362539.1:p.Met188Arg
NM_001375611.1:c.569T>G	NP_001362540.1:p.Met190Arg
NM_001375613.1:c.569T>G	NP_001362542.1:p.Met190Arg