Canonical Allele Identifier: CA2197741

Gene: PER2

Linked Data

• dbSNP Id: rs756889659
• ExAC: 2:239181713 C / T
• gnomAD v2: 2-239181713-C-T
• MyVariant Identifiers: chr2:g.239181713C>T (hg19) ; chr2:g.238273072C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.238273072C>T , CM000664.2:g.238273072C>T	GRCh38
NC_000002.11:g.239181713C>T , CM000664.1:g.239181713C>T	GRCh37
NC_000002.10:g.238846452C>T	NCBI36
NG_012146.1:g.20495G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707129.1:c.568G>A	ENSP00000516757.1:p.Ala190Thr
ENST00000707130.1:c.568G>A	ENSP00000516758.1:p.Ala190Thr
ENST00000254657.8:c.568G>A MANE Select	ENSP00000254657.3:p.Ala190Thr
ENST00000254657.7:c.568G>A	ENSP00000254657.3:p.Ala190Thr
ENST00000355768.6:c.568G>A	ENSP00000348013.2:p.Ala190Thr
NM_022817.2:c.568G>A	NP_073728.1:p.Ala190Thr
XM_005246111.3:c.568G>A	XP_005246168.1:p.Ala190Thr
XM_006712824.2:c.568G>A	XP_006712887.1:p.Ala190Thr
XM_005246111.4:c.568G>A	XP_005246168.1:p.Ala190Thr
XM_006712824.4:c.568G>A	XP_006712887.1:p.Ala190Thr
NM_022817.3:c.568G>A MANE Select	NP_073728.1:p.Ala190Thr