Canonical Allele Identifier: CA341559101

Gene: AMPD2

Linked Data

• MyVariant Identifiers: chr1:g.110171342T>G (hg19) ; chr1:g.109628720T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109628720T>G , CM000663.2:g.109628720T>G	GRCh38
NC_000001.10:g.110171342T>G , CM000663.1:g.110171342T>G	GRCh37
NC_000001.9:g.109972865T>G	NCBI36
NG_034075.1:g.13908T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.1485T>G	ENSP00000256578.4:p.Asp495Glu
ENST00000358729.9:c.1485T>G	ENSP00000351573.5:p.Asp495Glu
ENST00000369840.7:c.1485T>G	ENSP00000358855.3:p.Asp495Glu
ENST00000474459.6:n.2104T>G
ENST00000476688.3:c.1167T>G	ENSP00000437025.2:p.Asp389Glu
ENST00000486282.7:n.2441T>G
ENST00000524975.2:n.1966T>G
ENST00000525415.2:n.2001T>G
ENST00000526301.6:n.1548T>G
ENST00000527846.7:n.1340T>G
ENST00000528667.7:c.1485T>G MANE Select	ENSP00000436541.2:p.Asp495Glu
ENST00000531203.6:c.1293T>G	ENSP00000431975.2:p.Asp431Glu
ENST00000531734.6:c.1404T>G	ENSP00000433739.2:p.Asp468Glu
ENST00000652975.2:c.*1237T>G	ENSP00000499620.2:n.*1237T>G
ENST00000654851.1:n.1327T>G
ENST00000655992.1:c.1293T>G	ENSP00000499740.1:p.Asp431Glu
ENST00000659122.2:c.1407+225T>G	ENSP00000499621.2:n.1407+225T>G
ENST00000663749.1:c.*1232T>G	ENSP00000499739.1:n.*1232T>G
ENST00000667949.2:c.885T>G	ENSP00000499465.2:p.Asp295Glu
ENST00000668421.1:c.*1426T>G	ENSP00000499362.1:n.*1426T>G
ENST00000679379.1:c.*1237T>G	ENSP00000505528.1:n.*1237T>G
ENST00000679593.1:c.1485T>G	ENSP00000505999.1:p.Asp495Glu
ENST00000679880.1:n.2021T>G
ENST00000679892.1:c.*1253T>G	ENSP00000504882.1:n.*1253T>G
ENST00000679981.1:c.*1499T>G	ENSP00000506422.1:n.*1499T>G
ENST00000680132.1:c.*1435T>G	ENSP00000505950.1:n.*1435T>G
ENST00000680148.1:c.*1237T>G	ENSP00000505994.1:n.*1237T>G
ENST00000680170.1:n.2350T>G
ENST00000680192.1:n.2443T>G
ENST00000680519.1:n.1721T>G
ENST00000680531.1:c.*1232T>G	ENSP00000506332.1:n.*1232T>G
ENST00000680820.1:c.*1237T>G	ENSP00000505735.1:n.*1237T>G
ENST00000680832.1:c.*1585T>G	ENSP00000505774.1:n.*1585T>G
ENST00000680929.1:c.*1174T>G	ENSP00000504916.1:n.*1174T>G
ENST00000681108.1:c.*1245+225T>G	ENSP00000506701.1:n.*1245+225T>G
ENST00000681121.1:c.*595T>G	ENSP00000506466.1:n.*595T>G
ENST00000681132.1:c.*1251T>G	ENSP00000506195.1:n.*1251T>G
ENST00000681181.1:c.*1470T>G	ENSP00000506038.1:n.*1470T>G
ENST00000681218.1:c.*1758T>G	ENSP00000505976.1:n.*1758T>G
ENST00000681246.1:c.*1141T>G	ENSP00000505534.1:n.*1141T>G
ENST00000681496.1:c.*1758T>G	ENSP00000505948.1:n.*1758T>G
ENST00000681834.1:n.1824T>G
ENST00000681862.1:c.*1611T>G	ENSP00000505537.1:n.*1611T>G
ENST00000256578.7:c.1647T>G	ENSP00000256578.3:p.Asp549Glu
ENST00000342115.8:c.1404T>G	ENSP00000345498.4:p.Asp468Glu
ENST00000358729.8:c.1422T>G	ENSP00000351573.4:p.Asp474Glu
ENST00000369840.6:c.1558T>G
ENST00000393688.7:c.1290T>G	ENSP00000377292.3:p.Asp430Glu
ENST00000467071.1:n.7T>G
ENST00000526301.5:n.1686T>G
ENST00000528454.5:c.1293T>G	ENSP00000437164.1:p.Asp431Glu
ENST00000528667.5:c.1647T>G	ENSP00000436541.1:p.Asp549Glu
ENST00000532851.1:n.195T>G
ENST00000533132.1:n.187T>G
NM_001257360.1:c.1647T>G	NP_001244289.1:p.Asp549Glu
NM_001257361.1:c.1293T>G	NP_001244290.1:p.Asp431Glu
NM_001308170.1:c.1422T>G	NP_001295099.1:p.Asp474Glu
NM_004037.7:c.1647T>G	NP_004028.3:p.Asp549Glu
NM_139156.3:c.1404T>G	NP_631895.1:p.Asp468Glu
NM_203404.1:c.1290T>G	NP_981949.1:p.Asp430Glu
XM_011541247.1:c.1860T>G	XP_011539549.1:p.Asp620Glu
XM_011541248.1:c.1782+225T>G	XP_011539550.1:n.1782+225T>G
XR_946607.1:n.1883T>G
XM_024446431.1:c.1422T>G	XP_024302199.1:p.Asp474Glu
XM_024446432.1:c.1430+225T>G	XP_024302200.1:n.1430+225T>G
XR_002956282.1:n.2058T>G
NM_001257360.2:c.1647T>G	NP_001244289.1:p.Asp549Glu
NM_001368809.2:c.1485T>G MANE Select	NP_001355738.1:p.Asp495Glu
NM_004037.9:c.1485T>G	NP_004028.4:p.Asp495Glu
NM_001257361.2:c.1293T>G	NP_001244290.1:p.Asp431Glu
NM_139156.4:c.1404T>G	NP_631895.1:p.Asp468Glu