Canonical Allele Identifier: CA348401626

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183778C>G (hg19) ; chr2:g.127426202C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426202C>G , CM000664.2:g.127426202C>G	GRCh38
NC_000002.11:g.128183778C>G , CM000664.1:g.128183778C>G	GRCh37
NC_000002.10:g.127900248C>G	NCBI36
NG_016323.1:g.12783C>G , LRG_599:g.12783C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.653C>G MANE Select	ENSP00000234071.4:p.Thr218Ser
ENST00000234071.7:c.653C>G	ENSP00000234071.3:p.Thr218Ser
ENST00000402125.2:c.121-2155C>G
ENST00000409048.1:c.755C>G	ENSP00000386679.1:p.Thr252Ser
ENST00000464089.1:n.239C>G
NM_000312.3:c.653C>G , LRG_599t1:c.653C>G	NP_000303.1:p.Thr218Ser
XM_005263715.3:c.836C>G	XP_005263772.1:p.Thr279Ser
XM_005263716.3:c.818C>G	XP_005263773.1:p.Thr273Ser
XM_005263717.3:c.716C>G	XP_005263774.1:p.Thr239Ser
XM_005263717.4:c.716C>G	XP_005263774.1:p.Thr239Ser
XM_017004505.1:c.896C>G	XP_016859994.1:p.Thr299Ser
XM_024453002.1:c.998C>G	XP_024308770.1:p.Thr333Ser
XM_024453003.1:c.938C>G	XP_024308771.1:p.Thr313Ser
XM_024453004.1:c.836C>G	XP_024308772.1:p.Thr279Ser
XM_024453005.1:c.818C>G	XP_024308773.1:p.Thr273Ser
XM_024453006.1:c.755C>G	XP_024308774.1:p.Thr252Ser
XR_923313.2:n.4383G>C
NM_000312.4:c.653C>G MANE Select	NP_000303.1:p.Thr218Ser
NM_001375602.1:c.836C>G	NP_001362531.1:p.Thr279Ser
NM_001375603.1:c.818C>G	NP_001362532.1:p.Thr273Ser
NM_001375604.1:c.716C>G	NP_001362533.1:p.Thr239Ser
NM_001375605.1:c.755C>G	NP_001362534.1:p.Thr252Ser
NM_001375606.1:c.821C>G	NP_001362535.1:p.Thr274Ser
NM_001375607.1:c.839C>G	NP_001362536.1:p.Thr280Ser
NM_001375608.1:c.596C>G	NP_001362537.1:p.Thr199Ser
NM_001375609.1:c.629C>G	NP_001362538.1:p.Thr210Ser
NM_001375610.1:c.647C>G	NP_001362539.1:p.Thr216Ser
NM_001375611.1:c.653C>G	NP_001362540.1:p.Thr218Ser
NM_001375613.1:c.653C>G	NP_001362542.1:p.Thr218Ser