Canonical Allele Identifier: CA348401249

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183713C>G (hg19) ; chr2:g.127426137C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426137C>G , CM000664.2:g.127426137C>G	GRCh38
NC_000002.11:g.128183713C>G , CM000664.1:g.128183713C>G	GRCh37
NC_000002.10:g.127900183C>G	NCBI36
NG_016323.1:g.12718C>G , LRG_599:g.12718C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.588C>G MANE Select	ENSP00000234071.4:p.His196Gln
ENST00000234071.7:c.588C>G	ENSP00000234071.3:p.His196Gln
ENST00000402125.2:c.121-2220C>G
ENST00000409048.1:c.690C>G	ENSP00000386679.1:p.His230Gln
ENST00000464089.1:n.174C>G
NM_000312.3:c.588C>G , LRG_599t1:c.588C>G	NP_000303.1:p.His196Gln
XM_005263715.3:c.771C>G	XP_005263772.1:p.His257Gln
XM_005263716.3:c.753C>G	XP_005263773.1:p.His251Gln
XM_005263717.3:c.651C>G	XP_005263774.1:p.His217Gln
XM_005263717.4:c.651C>G	XP_005263774.1:p.His217Gln
XM_017004505.1:c.831C>G	XP_016859994.1:p.His277Gln
XM_024453002.1:c.933C>G	XP_024308770.1:p.His311Gln
XM_024453003.1:c.873C>G	XP_024308771.1:p.His291Gln
XM_024453004.1:c.771C>G	XP_024308772.1:p.His257Gln
XM_024453005.1:c.753C>G	XP_024308773.1:p.His251Gln
XM_024453006.1:c.690C>G	XP_024308774.1:p.His230Gln
XR_923313.2:n.4448G>C
NM_000312.4:c.588C>G MANE Select	NP_000303.1:p.His196Gln
NM_001375602.1:c.771C>G	NP_001362531.1:p.His257Gln
NM_001375603.1:c.753C>G	NP_001362532.1:p.His251Gln
NM_001375604.1:c.651C>G	NP_001362533.1:p.His217Gln
NM_001375605.1:c.690C>G	NP_001362534.1:p.His230Gln
NM_001375606.1:c.756C>G	NP_001362535.1:p.His252Gln
NM_001375607.1:c.774C>G	NP_001362536.1:p.His258Gln
NM_001375608.1:c.531C>G	NP_001362537.1:p.His177Gln
NM_001375609.1:c.564C>G	NP_001362538.1:p.His188Gln
NM_001375610.1:c.582C>G	NP_001362539.1:p.His194Gln
NM_001375611.1:c.588C>G	NP_001362540.1:p.His196Gln
NM_001375613.1:c.588C>G	NP_001362542.1:p.His196Gln