Canonical Allele Identifier: CA348401617

Gene: PROC

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.653C>A MANE Select	ENSP00000234071.4:p.Thr218Asn
ENST00000234071.7:c.653C>A	ENSP00000234071.3:p.Thr218Asn
ENST00000402125.2:c.121-2155C>A
ENST00000409048.1:c.755C>A	ENSP00000386679.1:p.Thr252Asn
ENST00000464089.1:n.239C>A
NM_000312.3:c.653C>A , LRG_599t1:c.653C>A	NP_000303.1:p.Thr218Asn
XM_005263715.3:c.836C>A	XP_005263772.1:p.Thr279Asn
XM_005263716.3:c.818C>A	XP_005263773.1:p.Thr273Asn
XM_005263717.3:c.716C>A	XP_005263774.1:p.Thr239Asn
XM_005263717.4:c.716C>A	XP_005263774.1:p.Thr239Asn
XM_017004505.1:c.896C>A	XP_016859994.1:p.Thr299Asn
XM_024453002.1:c.998C>A	XP_024308770.1:p.Thr333Asn
XM_024453003.1:c.938C>A	XP_024308771.1:p.Thr313Asn
XM_024453004.1:c.836C>A	XP_024308772.1:p.Thr279Asn
XM_024453005.1:c.818C>A	XP_024308773.1:p.Thr273Asn
XM_024453006.1:c.755C>A	XP_024308774.1:p.Thr252Asn
XR_923313.2:n.4383G>T
NM_000312.4:c.653C>A MANE Select	NP_000303.1:p.Thr218Asn
NM_001375602.1:c.836C>A	NP_001362531.1:p.Thr279Asn
NM_001375603.1:c.818C>A	NP_001362532.1:p.Thr273Asn
NM_001375604.1:c.716C>A	NP_001362533.1:p.Thr239Asn
NM_001375605.1:c.755C>A	NP_001362534.1:p.Thr252Asn
NM_001375606.1:c.821C>A	NP_001362535.1:p.Thr274Asn
NM_001375607.1:c.839C>A	NP_001362536.1:p.Thr280Asn
NM_001375608.1:c.596C>A	NP_001362537.1:p.Thr199Asn
NM_001375609.1:c.629C>A	NP_001362538.1:p.Thr210Asn
NM_001375610.1:c.647C>A	NP_001362539.1:p.Thr216Asn
NM_001375611.1:c.653C>A	NP_001362540.1:p.Thr218Asn
NM_001375613.1:c.653C>A	NP_001362542.1:p.Thr218Asn