Canonical Allele Identifier: CA341559082

Gene: AMPD2

Linked Data

• dbSNP Id: rs867317000
• gnomAD v3: 1-109628710-G-T
• gnomAD v4: 1-109628710-G-T
• MyVariant Identifiers: chr1:g.110171332G>T (hg19) ; chr1:g.109628710G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109628710G>T , CM000663.2:g.109628710G>T	GRCh38
NC_000001.10:g.110171332G>T , CM000663.1:g.110171332G>T	GRCh37
NC_000001.9:g.109972855G>T	NCBI36
NG_034075.1:g.13898G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.1475G>T	ENSP00000256578.4:p.Arg492Leu
ENST00000358729.9:c.1475G>T	ENSP00000351573.5:p.Arg492Leu
ENST00000369840.7:c.1475G>T	ENSP00000358855.3:p.Arg492Leu
ENST00000474459.6:n.2094G>T
ENST00000476688.3:c.1157G>T	ENSP00000437025.2:p.Arg386Leu
ENST00000486282.7:n.2431G>T
ENST00000524975.2:n.1956G>T
ENST00000525415.2:n.1991G>T
ENST00000526301.6:n.1538G>T
ENST00000527846.7:n.1330G>T
ENST00000528667.7:c.1475G>T MANE Select	ENSP00000436541.2:p.Arg492Leu
ENST00000531203.6:c.1283G>T	ENSP00000431975.2:p.Arg428Leu
ENST00000531734.6:c.1394G>T	ENSP00000433739.2:p.Arg465Leu
ENST00000652975.2:c.*1227G>T	ENSP00000499620.2:n.*1227G>T
ENST00000654851.1:n.1317G>T
ENST00000655992.1:c.1283G>T	ENSP00000499740.1:p.Arg428Leu
ENST00000659122.2:c.1407+215G>T	ENSP00000499621.2:n.1407+215G>T
ENST00000663749.1:c.*1222G>T	ENSP00000499739.1:n.*1222G>T
ENST00000667949.2:c.875G>T	ENSP00000499465.2:p.Arg292Leu
ENST00000668421.1:c.*1416G>T	ENSP00000499362.1:n.*1416G>T
ENST00000679379.1:c.*1227G>T	ENSP00000505528.1:n.*1227G>T
ENST00000679593.1:c.1475G>T	ENSP00000505999.1:p.Arg492Leu
ENST00000679880.1:n.2011G>T
ENST00000679892.1:c.*1243G>T	ENSP00000504882.1:n.*1243G>T
ENST00000679981.1:c.*1489G>T	ENSP00000506422.1:n.*1489G>T
ENST00000680132.1:c.*1425G>T	ENSP00000505950.1:n.*1425G>T
ENST00000680148.1:c.*1227G>T	ENSP00000505994.1:n.*1227G>T
ENST00000680170.1:n.2340G>T
ENST00000680192.1:n.2433G>T
ENST00000680519.1:n.1711G>T
ENST00000680531.1:c.*1222G>T	ENSP00000506332.1:n.*1222G>T
ENST00000680820.1:c.*1227G>T	ENSP00000505735.1:n.*1227G>T
ENST00000680832.1:c.*1575G>T	ENSP00000505774.1:n.*1575G>T
ENST00000680929.1:c.*1164G>T	ENSP00000504916.1:n.*1164G>T
ENST00000681108.1:c.*1245+215G>T	ENSP00000506701.1:n.*1245+215G>T
ENST00000681121.1:c.*585G>T	ENSP00000506466.1:n.*585G>T
ENST00000681132.1:c.*1241G>T	ENSP00000506195.1:n.*1241G>T
ENST00000681181.1:c.*1460G>T	ENSP00000506038.1:n.*1460G>T
ENST00000681218.1:c.*1748G>T	ENSP00000505976.1:n.*1748G>T
ENST00000681246.1:c.*1131G>T	ENSP00000505534.1:n.*1131G>T
ENST00000681496.1:c.*1748G>T	ENSP00000505948.1:n.*1748G>T
ENST00000681834.1:n.1814G>T
ENST00000681862.1:c.*1601G>T	ENSP00000505537.1:n.*1601G>T
ENST00000256578.7:c.1637G>T	ENSP00000256578.3:p.Arg546Leu
ENST00000342115.8:c.1394G>T	ENSP00000345498.4:p.Arg465Leu
ENST00000358729.8:c.1412G>T	ENSP00000351573.4:p.Arg471Leu
ENST00000369840.6:c.1548G>T
ENST00000393688.7:c.1280G>T	ENSP00000377292.3:p.Arg427Leu
ENST00000526301.5:n.1676G>T
ENST00000528454.5:c.1283G>T	ENSP00000437164.1:p.Arg428Leu
ENST00000528667.5:c.1637G>T	ENSP00000436541.1:p.Arg546Leu
ENST00000532851.1:n.185G>T
ENST00000533132.1:n.177G>T
NM_001257360.1:c.1637G>T	NP_001244289.1:p.Arg546Leu
NM_001257361.1:c.1283G>T	NP_001244290.1:p.Arg428Leu
NM_001308170.1:c.1412G>T	NP_001295099.1:p.Arg471Leu
NM_004037.7:c.1637G>T	NP_004028.3:p.Arg546Leu
NM_139156.3:c.1394G>T	NP_631895.1:p.Arg465Leu
NM_203404.1:c.1280G>T	NP_981949.1:p.Arg427Leu
XM_011541247.1:c.1850G>T	XP_011539549.1:p.Arg617Leu
XM_011541248.1:c.1782+215G>T	XP_011539550.1:n.1782+215G>T
XR_946607.1:n.1873G>T
XM_024446431.1:c.1412G>T	XP_024302199.1:p.Arg471Leu
XM_024446432.1:c.1430+215G>T	XP_024302200.1:n.1430+215G>T
XR_002956282.1:n.2048G>T
NM_001257360.2:c.1637G>T	NP_001244289.1:p.Arg546Leu
NM_001368809.2:c.1475G>T MANE Select	NP_001355738.1:p.Arg492Leu
NM_004037.9:c.1475G>T	NP_004028.4:p.Arg492Leu
NM_001257361.2:c.1283G>T	NP_001244290.1:p.Arg428Leu
NM_139156.4:c.1394G>T	NP_631895.1:p.Arg465Leu