Canonical Allele Identifier: CA341559095

Gene: AMPD2

Linked Data

• MyVariant Identifiers: chr1:g.110171340G>C (hg19) ; chr1:g.109628718G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109628718G>C , CM000663.2:g.109628718G>C	GRCh38
NC_000001.10:g.110171340G>C , CM000663.1:g.110171340G>C	GRCh37
NC_000001.9:g.109972863G>C	NCBI36
NG_034075.1:g.13906G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.1483G>C	ENSP00000256578.4:p.Asp495His
ENST00000358729.9:c.1483G>C	ENSP00000351573.5:p.Asp495His
ENST00000369840.7:c.1483G>C	ENSP00000358855.3:p.Asp495His
ENST00000474459.6:n.2102G>C
ENST00000476688.3:c.1165G>C	ENSP00000437025.2:p.Asp389His
ENST00000486282.7:n.2439G>C
ENST00000524975.2:n.1964G>C
ENST00000525415.2:n.1999G>C
ENST00000526301.6:n.1546G>C
ENST00000527846.7:n.1338G>C
ENST00000528667.7:c.1483G>C MANE Select	ENSP00000436541.2:p.Asp495His
ENST00000531203.6:c.1291G>C	ENSP00000431975.2:p.Asp431His
ENST00000531734.6:c.1402G>C	ENSP00000433739.2:p.Asp468His
ENST00000652975.2:c.*1235G>C	ENSP00000499620.2:n.*1235G>C
ENST00000654851.1:n.1325G>C
ENST00000655992.1:c.1291G>C	ENSP00000499740.1:p.Asp431His
ENST00000659122.2:c.1407+223G>C	ENSP00000499621.2:n.1407+223G>C
ENST00000663749.1:c.*1230G>C	ENSP00000499739.1:n.*1230G>C
ENST00000667949.2:c.883G>C	ENSP00000499465.2:p.Asp295His
ENST00000668421.1:c.*1424G>C	ENSP00000499362.1:n.*1424G>C
ENST00000679379.1:c.*1235G>C	ENSP00000505528.1:n.*1235G>C
ENST00000679593.1:c.1483G>C	ENSP00000505999.1:p.Asp495His
ENST00000679880.1:n.2019G>C
ENST00000679892.1:c.*1251G>C	ENSP00000504882.1:n.*1251G>C
ENST00000679981.1:c.*1497G>C	ENSP00000506422.1:n.*1497G>C
ENST00000680132.1:c.*1433G>C	ENSP00000505950.1:n.*1433G>C
ENST00000680148.1:c.*1235G>C	ENSP00000505994.1:n.*1235G>C
ENST00000680170.1:n.2348G>C
ENST00000680192.1:n.2441G>C
ENST00000680519.1:n.1719G>C
ENST00000680531.1:c.*1230G>C	ENSP00000506332.1:n.*1230G>C
ENST00000680820.1:c.*1235G>C	ENSP00000505735.1:n.*1235G>C
ENST00000680832.1:c.*1583G>C	ENSP00000505774.1:n.*1583G>C
ENST00000680929.1:c.*1172G>C	ENSP00000504916.1:n.*1172G>C
ENST00000681108.1:c.*1245+223G>C	ENSP00000506701.1:n.*1245+223G>C
ENST00000681121.1:c.*593G>C	ENSP00000506466.1:n.*593G>C
ENST00000681132.1:c.*1249G>C	ENSP00000506195.1:n.*1249G>C
ENST00000681181.1:c.*1468G>C	ENSP00000506038.1:n.*1468G>C
ENST00000681218.1:c.*1756G>C	ENSP00000505976.1:n.*1756G>C
ENST00000681246.1:c.*1139G>C	ENSP00000505534.1:n.*1139G>C
ENST00000681496.1:c.*1756G>C	ENSP00000505948.1:n.*1756G>C
ENST00000681834.1:n.1822G>C
ENST00000681862.1:c.*1609G>C	ENSP00000505537.1:n.*1609G>C
ENST00000256578.7:c.1645G>C	ENSP00000256578.3:p.Asp549His
ENST00000342115.8:c.1402G>C	ENSP00000345498.4:p.Asp468His
ENST00000358729.8:c.1420G>C	ENSP00000351573.4:p.Asp474His
ENST00000369840.6:c.1556G>C
ENST00000393688.7:c.1288G>C	ENSP00000377292.3:p.Asp430His
ENST00000467071.1:n.5G>C
ENST00000526301.5:n.1684G>C
ENST00000528454.5:c.1291G>C	ENSP00000437164.1:p.Asp431His
ENST00000528667.5:c.1645G>C	ENSP00000436541.1:p.Asp549His
ENST00000532851.1:n.193G>C
ENST00000533132.1:n.185G>C
NM_001257360.1:c.1645G>C	NP_001244289.1:p.Asp549His
NM_001257361.1:c.1291G>C	NP_001244290.1:p.Asp431His
NM_001308170.1:c.1420G>C	NP_001295099.1:p.Asp474His
NM_004037.7:c.1645G>C	NP_004028.3:p.Asp549His
NM_139156.3:c.1402G>C	NP_631895.1:p.Asp468His
NM_203404.1:c.1288G>C	NP_981949.1:p.Asp430His
XM_011541247.1:c.1858G>C	XP_011539549.1:p.Asp620His
XM_011541248.1:c.1782+223G>C	XP_011539550.1:n.1782+223G>C
XR_946607.1:n.1881G>C
XM_024446431.1:c.1420G>C	XP_024302199.1:p.Asp474His
XM_024446432.1:c.1430+223G>C	XP_024302200.1:n.1430+223G>C
XR_002956282.1:n.2056G>C
NM_001257360.2:c.1645G>C	NP_001244289.1:p.Asp549His
NM_001368809.2:c.1483G>C MANE Select	NP_001355738.1:p.Asp495His
NM_004037.9:c.1483G>C	NP_004028.4:p.Asp495His
NM_001257361.2:c.1291G>C	NP_001244290.1:p.Asp431His
NM_139156.4:c.1402G>C	NP_631895.1:p.Asp468His